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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01928.hp1 HG01978.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0002g0177others(2): Show | 5 | 234 | 0.0214 | 18 | c.221 others(35): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139803685 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 HG06807.hp2 |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0006a0003c0004t0008g0008 | 2 | 234 | 0.0086 | 18 | c.555 others(33): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 6/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18967.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0014 | a0002c0002t0002g0050a0002c0002t0014g0001 | 2 | 234 | 0.0086 | 18 | c.28- others(35): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24682361 | A | ATGTGTGG others(11): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0274 | 1 | 382 | 0.0026 | 18 | c.168 others(33): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A2_chr1_16980958_17016928 | 16994197 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18948.hp2 NA18959.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0172a0001c0001t0001g0186others(4): Show | 7 | 366 | 0.0191 | 18 | c.154 others(35): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 15/28 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 304 | 0.0033 | 18 | c.340 others(37): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194468386 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0182a0001c0001t0007g0184 | 2 | 304 | 0.0066 | 18 | c.-46 others(35): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02165.hp2 NA18975.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0001a0003c0005t0006 | a0002c0002t0001g0279a0003c0005t0001g0290a0003c0005t0006g0292 | 3 | 302 | 0.0099 | 18 | c.235 others(35): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0018 | 1 | 284 | 0.0035 | 18 | c.*49 others(29): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193368392 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG01934.hp1 others(1): Show |
a0001a0012 | a0001c0015a0012c0021 | a0001c0015t0002a0012c0021t0002 | a0001c0015t0002g0240a0001c0015t0002g0241a0001c0015t0002g0242others(1): Show | 4 | 284 | 0.0141 | 18 | c.64- others(33): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18994.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0003 | a0001c0004t0001g0316a0001c0005t0003g0240 | 2 | 418 | 0.0048 | 18 | c.297 others(35): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 408 | 0.0025 | 18 | c.-23 others(29): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | ||||||
ATP23_chr12_57936567_57964148 | 57941434 | G | GCGCCCCG others(11): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0015a0001c0004t0003g0026a0001c0004t0003g0047others(1): Show | 8 | 393 | 0.0204 | 18 | c.-26 others(27): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 132 | chr12 | TogoVar | ||||||
ATP23_chr12_57936567_57964148 | 57941447 | T | TGCCCTCG others(11): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0033 | 2 | 393 | 0.0051 | 18 | c.-25 others(27): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 119 | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3965849 | T | TTTATTAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02683.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0009 | a0001c0004t0032a0001c0005t0002a0001c0005t0004others(1): Show | a0001c0004t0032g0109a0001c0005t0002g0005a0001c0005t0004g0105others(1): Show | 4 | 332 | 0.0121 | 18 | c.-15 others(29): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1413 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02602.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047a0001c0002t0001g0134 | 2 | 332 | 0.0060 | 18 | c.209 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01978.hp2 HG02155.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0191a0001c0001t0001g0196a0001c0001t0001g0237others(4): Show | 7 | 332 | 0.0211 | 18 | c.-22 others(37): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658641 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0208 | 1 | 332 | 0.0030 | 18 | c.-22 others(37): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02559.hp1 NA19084.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0020a0001c0002t0001others(1): Show | a0001c0001t0001g0069a0001c0001t0020g0048a0001c0002t0001g0114others(1): Show | 4 | 332 | 0.0121 | 18 | c.-22 others(39): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG02004.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0153a0001c0001t0004g0214a0001c0001t0004g0305others(2): Show | 5 | 318 | 0.0157 | 18 | c.193 others(35): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203719225 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0150 | 1 | 318 | 0.0031 | 18 | c.240 others(37): 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(11): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03041.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0014a0001c0001t0024a0001c0019t0014 | a0001c0001t0014g0297a0001c0001t0024g0098a0001c0019t0014g0314 | 3 | 318 | 0.0094 | 18 | c.*49 others(29): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130941252 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 382 | 0.0026 | 18 | c.423 others(33): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130970369 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 382 | 0.0026 | 18 | c.141 others(36): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84383735 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03579.hp1 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0001a0002c0004t0001 | a0001c0005t0001g0066a0002c0004t0001g0067 | 2 | 432 | 0.0046 | 18 | c.100 others(37): 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(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01081.hp1 others(20): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(13): Show | a0001c0001t0002g0309a0001c0001t0002g0336a0001c0001t0002g0362others(20): Show | 23 | 432 | 0.0532 | 18 | c.100 others(33): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84397669 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0372 | 1 | 432 | 0.0023 | 18 | c.100 others(33): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84397670 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03492.hp2 |
a0002 | a0002c0006a0002c0008 | a0002c0006t0001a0002c0008t0001 | a0002c0006t0001g0026a0002c0008t0001g0029 | 2 | 432 | 0.0046 | 18 | c.100 others(33): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424576 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02970.hp1 |
a0002a0004 | a0002c0007a0004c0013 | a0002c0007t0001a0004c0013t0001 | a0002c0007t0001g0212a0004c0013t0001g0074 | 2 | 432 | 0.0046 | 18 | c.920 others(35): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424599 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00735.hp1 others(11): Show |
a0001a0017a0020 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0334a0001c0001t0003g0323a0001c0001t0003g0358others(11): Show | 14 | 432 | 0.0324 | 18 | c.920 others(35): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | chr16 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46092617 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0227a0001c0001t0039g0228 | 2 | 390 | 0.0051 | 18 | c.140 others(33): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46094186 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0079 | a0001c0001t0006g0188a0001c0001t0006g0195a0001c0001t0006g0196others(2): Show | 5 | 390 | 0.0128 | 18 | c.139 others(33): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 334 | 0.0060 | 18 | c.*32 others(29): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53665751 | A | ATGGAAGA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(349): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(201): Show | 352 | 418 | 0.8421 | 18 | c.312 others(33): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATATA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 NA18941.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0032a0001c0001t0001g0208 | 8 | 418 | 0.0191 | 18 | c.311 others(35): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0046a0001c0001t0001g0090others(2): Show | 10 | 418 | 0.0239 | 18 | c.39+ others(31): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGAG others(11): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0210 | 2 | 418 | 0.0048 | 18 | c.-32 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 668914 | A | ACTACCCC others(11): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 NA18979.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0020 | 3 | 394 | 0.0076 | 18 | c.*35 others(29): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3521 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669039 | T | TTCCCCTA others(11): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | 18 | c.*34 others(29): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3396 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669324 | G | GCTACCCC others(11): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | 18 | c.*31 others(29): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3111 | chr4 | TogoVar | ||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01934.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0000a0001c0001t0007g0000 | 5 | 374 | 0.0134 | 18 | c.*12 others(29): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103911005 | C | CGGGGGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0130a0001c0001t0001g0131others(2): Show | 5 | 440 | 0.0114 | 18 | c.*16 others(29): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1282 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103914837 | C | CAAAAAGG others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 440 | 0.0023 | 18 | c.124 others(33): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103914849 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0131a0001c0001t0001g0157others(2): Show | 5 | 440 | 0.0114 | 18 | c.124 others(33): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103914849 | A | AAGAAAAA others(11): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 440 | 0.0023 | 18 | c.124 others(33): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103925043 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 NA18991.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0184a0002c0002t0001g0015 | 2 | 440 | 0.0046 | 18 | c.-35 others(29): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 3515 | chr14 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111449216 | G | GAGACTCA others(11): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 434 | 0.0023 | 18 | c.-32 others(27): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 247 | chr1 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111457312 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0016 | 4 | 434 | 0.0092 | 18 | c.513 others(33): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123712053 | T | TCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0152 | 1 | 222 | 0.0045 | 18 | c.-51 others(27): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 299 | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123712055 | T | TCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01175.hp2 others(9): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0001c0002t0036a0002c0004t0007 | a0001c0002t0002g0004a0001c0002t0002g0147a0001c0002t0002g0160others(9): Show | 12 | 222 | 0.0541 | 18 | c.-51 others(27): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 297 | chr12 | TogoVar |