| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP1B3_chr3_141871643_141931549 | 141885439 | CTTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0079a0001c0001t0001g0330a0001c0001t0001g0331others(8): Show | 11 | 408 | 0.0270 | -8 | c.109 others(25): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141885880 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01943.hp2 HG02004.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0181a0001c0001t0001g0182others(14): Show | 17 | 408 | 0.0417 | -8 | c.109 others(25): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0246others(66): Show | 71 | 408 | 0.1740 | -8 | c.110 others(27): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2A1_chr16_28873488_28909466 | 28908999 | CTATATAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(319): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(273): Show | 322 | 380 | 0.8474 | -8 | c.*48 others(19): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 4534 | chr16 | TogoVar | ||||||
| ATP2A3_chr17_3918873_3969437 | 3940042 | TGTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG02523.hp2 HG02683.hp1 HG03540.hp1 others(5): Show |
a0001 | a0001c0001a0001c0009a0001c0017others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0009t0001g0065others(5): Show | 8 | 332 | 0.0241 | -8 | c.210 others(25): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
| ATP2A3_chr17_3918873_3969437 | 3949127 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0005a0001c0007others(9): Show | a0001c0004t0001a0001c0005t0001a0001c0005t0002others(14): Show | a0001c0004t0001g0037a0001c0005t0001g0006a0001c0005t0001g0026others(31): Show | 37 | 332 | 0.1115 | -8 | c.631 others(25): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 7/20 | chr17 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89658598 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02630.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0085a0001c0002t0001g0110a0001c0002t0001g0111others(1): Show | 4 | 332 | 0.0121 | -8 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89677965 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0002g0122others(5): Show | 8 | 332 | 0.0241 | -8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89677967 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(19): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0036a0001c0001t0001g0037others(19): Show | 22 | 332 | 0.0663 | -8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89677969 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0238a0001c0001t0001g0289others(1): Show | 5 | 332 | 0.0151 | -8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10319761 | TGAGAGAG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0028others(27): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0063others(98): Show | 102 | 290 | 0.3517 | -8 | c.*90 others(19): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4261 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10321693 | AATCTATC others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01975.hp2 HG02055.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0004others(8): Show | a0001c0001t0002g0027a0001c0001t0004g0187a0001c0002t0004g0075others(8): Show | 11 | 290 | 0.0379 | -8 | c.*71 others(19): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2329 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10471364 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03195.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0002t0002g0048a0001c0004t0001g0003a0001c0004t0002g0211others(1): Show | 4 | 290 | 0.0138 | -8 | c.-31 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488112 | TCCATCCA others(1): Show |
T | intron_variant | MODIFIER | NA19004.hp1 NA19007.hp2 NA19081.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0168a0001c0001t0001g0227a0001c0004t0001g0233 | 3 | 290 | 0.0103 | -8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488232 | CCTATCCA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(47): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(22): Show | a0001c0001t0001g0063a0001c0001t0001g0096a0001c0001t0001g0115others(47): Show | 50 | 290 | 0.1724 | -8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488463 | ATTCCTTC others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02055.hp2 others(15): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0030others(11): Show | a0001c0002t0005g0181a0001c0002t0005g0182a0001c0002t0006g0191others(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 | 10488499 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(19): Show | a0001c0001t0001g0021a0001c0001t0001g0063a0001c0001t0001g0096others(25): Show | 28 | 290 | 0.0966 | -8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B3_chrX_153512642_153587929 | 153549198 | TGTGGGGT others(1): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA18906.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0016 | 2 | 267 | 0.0075 | -8 | c.133 others(25): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153585894 | GGGGAGGG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0000 | a0000c0018 | a0000c0018t0013 | a0000c0018t0013g0090 | 1 | 267 | 0.0038 | -8 | c.*55 others(19): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2966 | chrX | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203624229 | AGAAGGAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01169.hp1 HG01169.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0002g0271a0001c0001t0002g0295a0001c0001t0003g0206others(9): Show | 12 | 318 | 0.0377 | -8 | c.-34 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2602 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203624249 | GGAAGGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00733.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0055a0001c0001t0001g0076others(17): Show | 20 | 318 | 0.0629 | -8 | c.-34 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2582 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203624253 | GGAAAGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG00733.hp1 others(9): Show |
a0001a0004a0009 | a0001c0001a0001c0003a0001c0016others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0020others(6): Show | a0001c0001t0003g0001a0001c0001t0004g0170a0001c0001t0004g0173others(9): Show | 12 | 318 | 0.0377 | -8 | c.-34 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2578 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203626272 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG02165.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0123a0001c0001t0002g0051a0001c0001t0003g0283others(2): Show | 5 | 318 | 0.0157 | -8 | c.-14 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 559 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203674637 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(48): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0041a0001c0001t0001g0076a0001c0001t0001g0092others(48): Show | 51 | 318 | 0.1604 | -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 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0006a0001c0009 | a0001c0006t0002a0001c0006t0006a0001c0006t0039others(1): Show | a0001c0006t0002g0317a0001c0006t0006g0066a0001c0006t0039g0018others(2): Show | 5 | 318 | 0.0157 | -8 | c.240 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130941223 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(120): Show | 125 | 382 | 0.3272 | -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 | 130941283 | CGCGCGCA others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(1): Show | 4 | 382 | 0.0105 | -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 | CGTATGTA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00741.hp2 others(38): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0077a0001c0001t0001g0081others(37): Show | 41 | 382 | 0.1073 | -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 | 131006635 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(77): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(75): Show | 80 | 382 | 0.2094 | -8 | c.*52 others(19): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 3486 | chr3 | TogoVar | ||||||
| ATP2C2_chr16_84363538_84469187 | 84424576 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00639.hp1 others(57): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(26): Show | a0001c0001t0002a0001c0002t0003a0001c0009t0001others(30): Show | a0001c0001t0002g0316a0001c0002t0003g0061a0001c0009t0001g0147others(57): Show | 60 | 432 | 0.1389 | -8 | c.920 others(25): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84433683 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(128): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0078a0001c0001t0001g0329a0001c0001t0001g0334others(128): Show | 131 | 432 | 0.3032 | -8 | c.987 others(25): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84458350 | CGGGGGAG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(411): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0003others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0078a0001c0001t0001g0313a0001c0001t0001g0329others(411): Show | 414 | 432 | 0.9583 | -8 | c.214 others(25): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP5F1D_chr19_1236751_1249825 | 1247128 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02129.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0002t0001g0001 | 10 | 412 | 0.0243 | -8 | c.*26 others(19): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 2304 | chr19 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48888313 | CCTATCTA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(119): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(9): Show | 122 | 334 | 0.3653 | -8 | c.-46 others(19): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 4473 | chr17 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48899067 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01891.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0003g0003others(1): Show | 16 | 334 | 0.0479 | -8 | c.*32 others(19): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53673319 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03195.hp1 NA18522.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026a0001c0002t0001g0044a0001c0002t0001g0102others(1): Show | 7 | 418 | 0.0168 | -8 | c.-31 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53673343 | CAAACAAA others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03130.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0099a0001c0001t0001g0112 | 5 | 418 | 0.0120 | -8 | c.-31 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53679238 | CGAGAGAG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01891.hp2 HG02004.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0020others(12): Show | 18 | 418 | 0.0431 | -8 | c.-32 others(19): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
| ATP5MC3_chr2_175171258_175186710 | 175174742 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(266): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(26): Show | 269 | 390 | 0.6897 | -8 | c.*35 others(19): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1515 | chr2 | TogoVar | ||||||
| ATP5MC3_chr2_175171258_175186710 | 175177651 | TGGACTGA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(294): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(29): Show | 297 | 390 | 0.7615 | -8 | c.*62 others(17): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 5/5 | 629 | chr2 | TogoVar | |||||
| ATP5MGL_chr22_42634803_42645601 | 42640350 | CTTATTTA others(1): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(128): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0017a0001c0001t0022others(3): Show | a0001c0001t0005g0000a0001c0001t0017g0000a0001c0001t0022g0000others(3): Show | 131 | 374 | 0.3503 | -8 | c.-84 others(15): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | TogoVar | |||||
| ATP5MJ_chr14_103907288_103926529 | 103924453 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(27): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0008a0002c0002t0001g0019a0002c0002t0001g0021others(11): Show | 30 | 440 | 0.0682 | -8 | c.-29 others(19): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2925 | chr14 | TogoVar | ||||||
| ATP6AP1_chrX_154423677_154441516 | 154433439 | CTGAAGCC others(1): Show |
C | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0039 | 1 | 302 | 0.0033 | -8 | c.599 others(23): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40594092 | AATATAAG others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG02027.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0025a0001c0001t0001g0027others(11): Show | 25 | 299 | 0.0836 | -8 | c.300 others(25): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6AP2_chrX_40575970_40611848 | 40602934 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 299 | 0.0033 | -8 | c.858 others(25): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | chrX | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138708017 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001a0007 | a0001c0005a0001c0008a0001c0010others(1): Show | a0001c0005t0002a0001c0008t0001a0001c0008t0002others(2): Show | a0001c0005t0002g0043a0001c0008t0001g0118a0001c0008t0002g0100others(4): Show | 7 | 376 | 0.0186 | -8 | c.243 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138718669 | TTCGGGGC others(1): Show |
T | intron_variant | MODIFIER | NA18951.hp1 NA18968.hp2 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0263a0001c0001t0001g0292a0002c0002t0001g0112 | 3 | 376 | 0.0080 | -8 | c.214 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138718670 | TCGGGGCG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0008others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0051others(93): Show | 96 | 376 | 0.2553 | -8 | c.214 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138730341 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0023 | a0001c0001t0001a0001c0005t0001a0001c0005t0004others(1): Show | a0001c0001t0001g0194a0001c0005t0001g0348a0001c0005t0004g0356others(2): Show | 5 | 376 | 0.0133 | -8 | c.190 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138731901 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02451.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0013a0001c0035others(4): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0004others(6): Show | a0001c0005t0001g0348a0001c0005t0002g0043a0001c0005t0004g0177others(9): Show | 12 | 376 | 0.0319 | -8 | c.190 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar |