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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP10A_chr15_25673712_25868327 | 25758781 | A | ACTCATTC others(17): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 300 | 0.0033 | 24 | c.654 others(43): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758781 | A | ACTCATTC others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(32): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(17): Show | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0075others(32): Show | 35 | 300 | 0.1167 | 24 | c.654 others(43): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 NA18906.hp1 |
a0007a0008a0039 | a0007c0016a0008c0006a0039c0049 | a0007c0016t0001a0008c0006t0001a0039c0049t0001 | a0007c0016t0001g0215a0008c0006t0001g0242a0039c0049t0001g0175 | 3 | 300 | 0.0100 | 24 | c.450 others(41): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160637017 | T | TATCCATC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01167.hp2 others(10): Show |
a0001a0002a0024 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0002t0006others(5): Show | a0001c0001t0002g0024a0001c0001t0002g0073a0001c0001t0002g0107others(10): Show | 13 | 236 | 0.0551 | 24 | c.100 others(41): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160637041 | A | AATCCATC others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0087 | 1 | 236 | 0.0042 | 24 | c.100 others(41): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47482454 | C | CTCTTCTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0025 | 1 | 332 | 0.0030 | 24 | c.-31 others(35): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2820 | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0214 | 1 | 254 | 0.0039 | 24 | c.441 others(39): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182925797 | T | TGGGGGGG others(17): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0136 | 1 | 324 | 0.0031 | 24 | c.*76 others(35): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 4169 | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139925455 | T | TTGTAGCC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(209): Show | 212 | 234 | 0.9060 | 24 | c.27+ others(39): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24682165 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(20): Show |
a0001a0003a0004others(1): Show | a0001c0006a0001c0010a0003c0009others(2): Show | a0001c0006t0001a0001c0010t0001a0003c0009t0001others(2): Show | a0001c0006t0001g0021a0001c0006t0001g0152a0001c0006t0001g0153others(17): Show | 23 | 382 | 0.0602 | 24 | c.168 others(39): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24682392 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01069.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0004a0001c0003t0002others(5): Show | a0001c0001t0004g0296a0001c0001t0004g0297a0001c0001t0004g0308others(24): Show | 31 | 382 | 0.0812 | 24 | c.168 others(39): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708942 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0162 | 1 | 382 | 0.0026 | 24 | c.249 others(41): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01993.hp2 HG02683.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0213a0001c0001t0001g0227a0001c0001t0001g0228others(2): Show | 5 | 382 | 0.0131 | 24 | c.249 others(41): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0328 | 1 | 382 | 0.0026 | 24 | c.249 others(41): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 382 | 0.0026 | 24 | c.249 others(41): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708954 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0201 | 1 | 382 | 0.0026 | 24 | c.249 others(41): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A3_chr3_194397677_194492002 | 194417954 | C | CGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026 | a0001c0001t0005g0174a0001c0001t0026g0294 | 2 | 304 | 0.0066 | 24 | c.340 others(43): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417958 | C | CGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0175 | 1 | 304 | 0.0033 | 24 | c.340 others(43): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193503995 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19043.hp2 |
a0001a0007 | a0001c0008a0007c0011 | a0001c0008t0003a0007c0011t0018 | a0001c0008t0003g0026a0007c0011t0018g0027 | 2 | 302 | 0.0066 | 24 | c.235 others(41): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0275 | 1 | 302 | 0.0033 | 24 | c.235 others(41): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0286 | 1 | 302 | 0.0033 | 24 | c.60+ others(41): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193362813 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0041 | a0003c0041t0002 | a0003c0041t0002g0198 | 1 | 284 | 0.0035 | 24 | c.385 others(39): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41972883 | C | CAGGCAGG others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0196 | 1 | 282 | 0.0036 | 24 | c.226 others(43): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0178 | 1 | 418 | 0.0024 | 24 | c.297 others(41): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141874464 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 408 | 0.0025 | 24 | c.-23 others(35): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2178 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141890160 | G | GGCTCACT others(17): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 408 | 0.0025 | 24 | c.109 others(43): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110309140 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0202 | 1 | 228 | 0.0044 | 24 | c.463 others(43): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01261.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0002t0001a0002c0011t0001 | a0001c0001t0001g0080a0001c0002t0001g0136a0001c0002t0001g0137others(3): Show | 6 | 332 | 0.0181 | 24 | c.-22 others(45): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153584573 | A | AAGGGAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0020 | a0001c0020t0009 | a0001c0020t0009g0229 | 1 | 267 | 0.0038 | 24 | c.*42 others(35): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1645 | chrX | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153584577 | A | AAGGGAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 267 | 0.0038 | 24 | c.*42 others(35): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1649 | chrX | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGGAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0002a0001c0001t0001g0113a0001c0001t0001g0161others(3): Show | 6 | 267 | 0.0225 | 24 | c.*42 others(35): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0003g0300 | 2 | 318 | 0.0063 | 24 | c.193 others(41): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203719721 | T | TATAAATA others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0043 | a0001c0001t0009g0148a0001c0001t0043g0158 | 2 | 318 | 0.0063 | 24 | c.240 others(41): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0012a0001c0001t0015a0001c0001t0038others(1): Show | a0001c0001t0012g0311a0001c0001t0015g0034a0001c0001t0015g0035others(3): Show | 6 | 318 | 0.0189 | 24 | c.*49 others(35): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84383735 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03688.hp1 HG03831.hp1 others(2): Show |
a0001a0002a0020 | a0001c0003a0001c0010a0001c0081others(2): Show | a0001c0003t0001a0001c0010t0002a0001c0081t0001others(2): Show | a0001c0003t0001g0124a0001c0010t0002g0135a0001c0081t0001g0107others(2): Show | 5 | 432 | 0.0116 | 24 | c.100 others(43): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01258.hp1 others(13): Show |
a0001a0002a0022others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0001t0002g0374others(13): Show | 16 | 432 | 0.0370 | 24 | c.100 others(39): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02257.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 3 | 334 | 0.0090 | 24 | c.*32 others(35): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | NA18978.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0205 | 2 | 418 | 0.0048 | 24 | c.311 others(41): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53676323 | T | TGGACTGC others(17): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18956.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0178a0001c0001t0001g0181others(3): Show | 6 | 418 | 0.0144 | 24 | c.-32 others(33): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 241 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGAG others(17): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 418 | 0.0024 | 24 | c.-32 others(35): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01081.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0019others(2): Show | a0001c0001t0002g0000a0001c0001t0006g0000a0001c0001t0019g0000others(2): Show | 9 | 374 | 0.0241 | 24 | c.*12 others(35): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103914837 | C | CAAAAAGG others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 440 | 0.0023 | 24 | c.124 others(39): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123712055 | T | TCACACAC others(17): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 HG02486.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0007 | a0001c0002t0002g0166a0002c0004t0007g0179 | 2 | 222 | 0.0090 | 24 | c.-51 others(33): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 297 | chr12 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138707068 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02074.hp2 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0093a0002c0002t0001g0086 | 2 | 376 | 0.0053 | 24 | c.243 others(41): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0014t0001others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0062others(6): Show | 9 | 376 | 0.0239 | 24 | c.132 others(41): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138745952 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0356 | 1 | 376 | 0.0027 | 24 | c.132 others(41): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02040.hp2 NA18942.hp2 others(9): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0002a0006c0008t0001 | a0001c0001t0001g0014a0001c0001t0001g0029a0001c0001t0001g0030others(9): Show | 12 | 360 | 0.0333 | 24 | c.302 others(43): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70962006 | C | CATTTCCC others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(239): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(25): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0145others(229): Show | 242 | 440 | 0.5500 | 24 | c.785 others(39): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17625472 | G | GTCTCAAA others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010a0001c0001t0004g0194a0001c0001t0004g0208others(16): Show | 21 | 370 | 0.0568 | 24 | c.33+ others(39): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/8 | chr22 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG02015.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0001 | a0001c0001t0001g0063a0001c0001t0001g0067a0001c0001t0001g0073others(7): Show | 10 | 310 | 0.0323 | 24 | c.295 others(41): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar |