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 | 25847609 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp2 others(31): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0002c0002others(15): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(15): Show | a0001c0001t0001g0056a0001c0001t0001g0063a0001c0001t0001g0066others(31): Show | 34 | 300 | 0.1133 | -9 | c.449 others(28): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112697727 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(37): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(52): Show | 55 | 254 | 0.2165 | -9 | c.39+ others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112724120 | TTCTCCCC others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp2 HG01891.hp2 others(7): Show |
a0001a0002a0005others(2): Show | a0001c0004a0001c0017a0001c0044others(5): Show | a0001c0004t0006a0001c0017t0058a0001c0044t0045others(6): Show | a0001c0004t0006g0058a0001c0004t0006g0061a0001c0017t0058g0053others(7): Show | 10 | 254 | 0.0394 | -9 | c.39+ others(26): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112803972 | TCCCTCAT others(2): Show |
T | intron_variant | MODIFIER | HG03540.hp1 HG03579.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0020a0001c0046 | a0001c0001t0001a0001c0020t0068a0001c0046t0016 | a0001c0001t0001g0210a0001c0020t0068g0055a0001c0046t0016g0062 | 3 | 254 | 0.0118 | -9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804191 | GCCCTCCT others(2): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02970.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0005a0001c0009 | a0001c0005t0020a0001c0005t0061a0001c0009t0004others(1): Show | a0001c0005t0020g0247a0001c0005t0061g0129a0001c0009t0004g0140others(1): Show | 4 | 254 | 0.0158 | -9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804296 | CCCTCCTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(42): Show | a0001c0001t0001g0029a0001c0001t0001g0065a0001c0001t0001g0150others(55): Show | 58 | 254 | 0.2284 | -9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804409 | CCCTCCTT others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(16): Show | a0001c0001t0001g0085a0001c0001t0001g0152a0001c0001t0001g0156others(29): Show | 32 | 254 | 0.1260 | -9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182791352 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(98): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(95): Show | 101 | 324 | 0.3117 | -9 | c.-24 others(20): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 2151 | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182844985 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG03540.hp1 others(6): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0004a0001c0002t0006a0001c0002t0022others(1): Show | a0001c0002t0004g0280a0001c0002t0004g0295a0001c0002t0006g0281others(6): Show | 9 | 324 | 0.0278 | -9 | c.705 others(24): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182923825 | TACAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0252a0001c0001t0005g0253a0001c0001t0005g0254others(8): Show | 11 | 324 | 0.0340 | -9 | c.*57 others(20): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 2197 | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139789970 | CAGTGAGC others(2): Show |
C | intron_variant | MODIFIER | NA18954.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178a0001c0001t0002g0179 | 2 | 234 | 0.0086 | -9 | c.120 others(26): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 12/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139803685 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0019others(2): Show | a0001c0001t0004g0062a0001c0001t0004g0201a0001c0001t0004g0208others(4): Show | 7 | 234 | 0.0299 | -9 | c.555 others(24): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 6/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139852450 | TGCGGGGG others(2): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 234 | 0.0043 | -9 | c.28- others(26): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 234 | 0.0043 | -9 | c.28- others(26): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139852473 | GGGGGGGG others(2): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 234 | 0.0043 | -9 | c.28- others(26): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139853833 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0035 | 1 | 234 | 0.0043 | -9 | c.28- others(26): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19664778 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0155others(1): Show | 6 | 380 | 0.0158 | -9 | c.-11 others(20): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 1103 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01358.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(6): Show | 11 | 380 | 0.0290 | -9 | c.-29 others(20): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193478834 | AATGTCCC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(131): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0008a0001c0019others(7): Show | a0001c0006t0001a0001c0006t0003a0001c0006t0007others(31): Show | a0001c0006t0001g0112a0001c0006t0001g0113a0001c0006t0001g0192others(131): Show | 134 | 302 | 0.4437 | -9 | c.808 others(26): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 8/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193347279 | ATTTAATT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(270): Show |
a0001a0002a0003others(31): Show | a0001c0006a0001c0007a0001c0012others(40): Show | a0001c0006t0001a0001c0006t0002a0001c0007t0001others(50): Show | a0001c0006t0001g0005a0001c0006t0001g0011a0001c0006t0001g0012others(253): Show | 273 | 284 | 0.9613 | -9 | c.742 others(26): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193353251 | GAAGCACA others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00738.hp1 others(15): Show |
a0001a0009a0018others(3): Show | a0001c0006a0009c0034a0018c0045others(3): Show | a0001c0006t0001a0009c0034t0001a0018c0045t0001others(3): Show | a0001c0006t0001g0011a0001c0006t0001g0012a0001c0006t0001g0083others(13): Show | 18 | 284 | 0.0634 | -9 | c.606 others(24): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 6/29 | chr3 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169125328 | CTTACATC others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(176): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0116a0001c0001t0002g0001a0001c0001t0002g0005others(147): Show | 179 | 412 | 0.4345 | -9 | c.382 others(24): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B1_chr1_169101690_169137719 | 169135014 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01069.hp2 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0014a0001c0004t0004 | a0001c0001t0004g0012a0001c0001t0004g0013a0001c0001t0004g0018others(25): Show | 32 | 412 | 0.0777 | -9 | c.*34 others(20): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01069.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0247a0001c0001t0001g0253a0001c0001t0001g0264others(49): Show | 53 | 408 | 0.1299 | -9 | c.110 others(28): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141892651 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG00673.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0004g0010a0001c0001t0004g0336a0001c0001t0004g0337others(50): Show | 54 | 408 | 0.1324 | -9 | c.110 others(28): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110309140 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0219a0001c0001t0007g0049a0001c0001t0007g0050others(3): Show | 6 | 228 | 0.0263 | -9 | c.463 others(28): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3965849 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0162a0001c0001t0002g0146a0001c0001t0002g0160 | 3 | 332 | 0.0090 | -9 | c.-15 others(20): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1413 | chr17 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10443544 | CCCGAAGC others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02896.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0006a0001c0003t0006a0001c0004t0001others(8): Show | a0001c0001t0006g0145a0001c0003t0006g0243a0001c0004t0001g0003others(8): Show | 11 | 290 | 0.0379 | -9 | c.199 others(26): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10471376 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0006a0001c0002t0030others(3): Show | a0001c0001t0003g0219a0001c0002t0006g0212a0001c0002t0030g0214others(3): Show | 6 | 290 | 0.0207 | -9 | c.-31 others(30): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203625326 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02071.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0039others(7): Show | 10 | 318 | 0.0315 | -9 | c.-23 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1505 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203674637 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(151): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0055others(150): Show | 154 | 318 | 0.4843 | -9 | c.-46 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203687259 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(270): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(269): Show | 273 | 318 | 0.8585 | -9 | c.193 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84447660 | TATATATT others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0002c0074others(1): Show | a0001c0001t0001a0001c0005t0002a0002c0074t0002others(1): Show | a0001c0001t0001g0078a0001c0005t0002g0075a0001c0005t0002g0210others(3): Show | 6 | 432 | 0.0139 | -9 | c.150 others(26): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46081664 | AAAAAAAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG02004.hp1 HG02148.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0019a0001c0001t0130others(4): Show | a0001c0001t0009g0021a0001c0001t0009g0048a0001c0001t0009g0266others(10): Show | 17 | 390 | 0.0436 | -9 | c.*26 others(20): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 12/12 | 2609 | chr18 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG01884.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0024a0001c0001t0001g0113a0001c0001t0005g0114others(21): Show | 30 | 390 | 0.0769 | -9 | c.140 others(24): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1D_chr19_1236751_1249825 | 1246820 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0016others(1): Show | 8 | 412 | 0.0194 | -9 | c.*23 others(20): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 1996 | chr19 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0010 | 6 | 334 | 0.0180 | -9 | c.*32 others(20): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53678370 | CCACCATC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(66): Show | 141 | 418 | 0.3373 | -9 | c.-23 others(20): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2288 | chr12 | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154437178 | CGGCGGCG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | -9 | c.*12 others(20): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 663 | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40602933 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0047a0001c0001t0001g0111a0001c0001t0001g0124others(2): Show | 5 | 299 | 0.0167 | -9 | c.858 others(26): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | chrX | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123708958 | ACACAGCT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0192a0001c0001t0019g0193 | 2 | 222 | 0.0090 | -9 | c.-36 others(20): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3394 | chr12 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138730931 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02818.hp1 others(8): Show |
a0001a0002 | a0001c0005a0001c0010a0001c0013others(3): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0002others(4): Show | a0001c0005t0001g0032a0001c0005t0005g0067a0001c0010t0002g0035others(8): Show | 11 | 376 | 0.0293 | -9 | c.190 others(28): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
ATP6V0B_chr1_43969960_43983295 | 43979336 | CGCGGCGG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00642.hp1 others(41): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0004a0001c0002t0002g0004a0001c0002t0002g0017 | 44 | 396 | 0.1111 | -9 | c.*13 others(20): Show |
ATP6V0B | ENSG00000117410.14 | transcript | ENST00000472174.7 | protein_coding | 1042 | chr1 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145370 | GAAGGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02129.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0174a0001c0001t0001g0318others(6): Show | 9 | 360 | 0.0250 | -9 | c.639 others(26): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173006403 | GATCGAGA others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(6): Show | 10 | 292 | 0.0343 | -9 | c.152 others(28): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113771429 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(113): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0036a0001c0001t0001g0109a0001c0001t0001g0110others(102): Show | 116 | 312 | 0.3718 | -9 | c.-13 others(26): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70940907 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(142): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0037others(134): Show | 145 | 440 | 0.3296 | -9 | c.119 others(26): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103043319 | CTTTGTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0026others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0014others(60): Show | 86 | 412 | 0.2087 | -9 | c.200 others(24): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103047454 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02132.hp2 HG03209.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0007a0001c0001t0030a0003c0007t0007 | a0001c0001t0007g0006a0001c0001t0007g0043a0001c0001t0007g0272others(7): Show | 14 | 412 | 0.0340 | -9 | c.201 others(26): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10743989 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01099.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0001a0002c0003t0002 | a0001c0001t0002g0268a0001c0001t0002g0269a0001c0001t0002g0270others(4): Show | 7 | 354 | 0.0198 | -9 | c.198 others(26): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |