| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP2A2_chr12_110276247_110356093 | 110300116 | TCCCTC | T | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01123.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0222a0001c0001t0004g0004a0001c0001t0004g0168others(14): Show | 17 | 228 | 0.0746 | -5 | c.463 others(22): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110311595 | CAAAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0045a0001c0001t0002g0054a0001c0001t0002g0055others(3): Show | 6 | 228 | 0.0263 | -5 | c.464 others(24): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110313310 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01069.hp2 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(1): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0042others(18): Show | 21 | 228 | 0.0921 | -5 | c.464 others(22): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A3_chr17_3918873_3969437 | 3940038 | TTTTTG | T | intron_variant | MODIFIER | HG00597.hp1 HG02109.hp1 HG02109.hp2 others(11): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0002t0001g0165a0001c0002t0002g0293a0001c0002t0004g0135others(11): Show | 14 | 332 | 0.0422 | -5 | c.210 others(22): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
| ATP2A3_chr17_3918873_3969437 | 3954433 | CACACA | C | intron_variant | MODIFIER | HG02055.hp2 HG03041.hp1 HG03098.hp1 others(2): Show |
a0001a0003a0007 | a0001c0010a0003c0013a0007c0030 | a0001c0010t0002a0003c0013t0001a0003c0013t0009others(1): Show | a0001c0010t0002g0041a0003c0013t0001g0018a0003c0013t0009g0017others(2): Show | 5 | 332 | 0.0151 | -5 | c.119 others(20): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10472080 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0021a0001c0001t0001g0079a0001c0001t0001g0090others(72): Show | 75 | 290 | 0.2586 | -5 | c.-31 others(26): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B3_chrX_153512642_153587929 | 153585863 | GAGAAA | G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG02055.hp1 others(11): Show |
a0000a0001a0003 | a0000c0018a0001c0001a0001c0004others(2): Show | a0000c0018t0013a0001c0001t0005a0001c0001t0013others(5): Show | a0000c0018t0013g0090a0001c0001t0005g0035a0001c0001t0005g0091others(11): Show | 14 | 267 | 0.0524 | -5 | c.*55 others(16): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2935 | chrX | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203624400 | AGGAAG | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(101): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0016a0001c0001t0001g0055a0001c0001t0001g0057others(101): Show | 104 | 318 | 0.3270 | -5 | c.-32 others(16): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2431 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203630365 | CTCTCT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(92): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0044a0001c0001t0002g0046a0001c0001t0002g0049others(91): Show | 95 | 318 | 0.2987 | -5 | c.-46 others(24): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203653976 | TATATA | T | intron_variant | MODIFIER | HG01099.hp2 HG01496.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0079a0001c0001t0002g0243a0001c0001t0003g0301others(6): Show | 9 | 318 | 0.0283 | -5 | c.-46 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203653978 | TATATA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(49): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0016a0001c0001t0001g0057a0001c0001t0001g0058others(49): Show | 52 | 318 | 0.1635 | -5 | c.-46 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203653980 | TATATA | T | intron_variant | MODIFIER | HG03195.hp1 NA18956.hp2 NA19087.hp1 others(1): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0022 | a0001c0001t0006a0001c0001t0016a0001c0002t0008others(1): Show | a0001c0001t0006g0126a0001c0001t0016g0021a0001c0002t0008g0312others(1): Show | 4 | 318 | 0.0126 | -5 | c.-46 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203718264 | AATTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(143): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(143): Show | 146 | 318 | 0.4591 | -5 | c.240 others(24): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130903700 | CCCTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(234): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(231): Show | 237 | 382 | 0.6204 | -5 | c.6+8 others(18): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130948269 | TGTTTA | T | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01167.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0002c0004t0001a0003c0005t0003 | a0001c0001t0001g0003a0001c0001t0001g0088a0001c0001t0001g0102others(12): Show | 16 | 382 | 0.0419 | -5 | c.532 others(22): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
| ATP2C1_chr3_130889084_131008150 | 130986864 | ATTAGT | A | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01071.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(43): Show | 48 | 382 | 0.1257 | -5 | c.184 others(24): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 131001842 | TTGTAA | T | 3_prime_UTR_variant | MODIFIER | HG02970.hp2 HG02976.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115a0001c0001t0002g0195a0001c0001t0002g0196others(1): Show | 4 | 382 | 0.0105 | -5 | c.*49 others(14): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 28/28 | 498 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ATP2C2_chr16_84363538_84469187 | 84444416 | TGAGCC | T | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp1 HG01255.hp1 others(11): Show |
a0003a0005a0010others(2): Show | a0003c0012a0003c0025a0003c0038others(5): Show | a0003c0012t0001a0003c0025t0001a0003c0038t0001others(6): Show | a0003c0012t0001g0314a0003c0012t0001g0377a0003c0012t0001g0378others(11): Show | 14 | 432 | 0.0324 | -5 | c.140 others(24): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84447902 | AATATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0313a0001c0001t0001g0329a0001c0001t0001g0334others(347): Show | 350 | 432 | 0.8102 | -5 | c.150 others(22): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84449102 | GCTGAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp2 others(73): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(26): Show | a0001c0001t0001g0078a0001c0002t0001g0267a0001c0002t0002g0068others(73): Show | 76 | 432 | 0.1759 | -5 | c.166 others(22): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84466019 | GGAAGA | G | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01192.hp1 HG01433.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0005a0001c0009others(12): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(12): Show | a0001c0003t0001g0030a0001c0003t0001g0082a0001c0003t0001g0083others(36): Show | 39 | 432 | 0.0903 | -5 | c.*22 others(16): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1833 | chr16 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46096982 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(47): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0014a0001c0001t0024others(21): Show | a0001c0001t0003g0003a0001c0001t0003g0232a0001c0001t0003g0234others(32): Show | 50 | 390 | 0.1282 | -5 | c.60+ others(20): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
| ATP5F1E_chr20_59020475_59037335 | 59033351 | AAAATC | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00642.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0014others(7): Show | 70 | 404 | 0.1733 | -5 | c.-11 others(16): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 1017 | chr20 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48890143 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(123): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(5): Show | 126 | 334 | 0.3773 | -5 | c.-27 others(16): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2643 | chr17 | TogoVar | ||||||
| ATP5MC3_chr2_175171258_175186710 | 175185671 | TTGAAA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(31): Show | 289 | 390 | 0.7410 | -5 | c.-40 others(16): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 3962 | chr2 | TogoVar | ||||||
| ATP5MGL_chr22_42634803_42645601 | 42642488 | GAGTGC | G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 4 | 374 | 0.0107 | -5 | c.-22 others(16): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1888 | chr22 | TogoVar | ||||||
| ATP5MJ_chr14_103907288_103926529 | 103922634 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01074.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0184a0002c0002t0001g0013a0002c0002t0001g0015others(8): Show | 20 | 440 | 0.0455 | -5 | c.-11 others(16): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1106 | chr14 | TogoVar | ||||||
| ATP5MJ_chr14_103907288_103926529 | 103924482 | CACAAT | C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01256.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0016a0001c0001t0002g0028others(9): Show | 20 | 440 | 0.0455 | -5 | c.-30 others(16): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2954 | chr14 | TogoVar | ||||||
| ATP5PB_chr1_111444464_111467773 | 111455311 | TAAAAA | T | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0026 | a0001c0001t0009g0036a0001c0001t0009g0073a0001c0001t0009g0081others(3): Show | 7 | 434 | 0.0161 | -5 | c.224 others(20): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP5PB_chr1_111444464_111467773 | 111462990 | CAGAAT | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0012a0001c0001t0005g0043a0001c0001t0005g0114others(2): Show | 10 | 434 | 0.0230 | -5 | c.*19 others(16): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 218 | chr1 | TogoVar | ||||||
| ATP5PD_chr17_75033863_75051969 | 75046246 | CTAATT | C | intron_variant | MODIFIER | HG02257.hp1 HG02738.hp1 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0088a0001c0001t0001g0089 | 5 | 428 | 0.0117 | -5 | c.-10 others(20): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40596411 | TAACTG | T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0178 | 1 | 299 | 0.0033 | -5 | c.301 others(20): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40607886 | CTTAAA | C | downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 299 | 0.0033 | -5 | c.*21 others(16): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1039 | chrX | TogoVar | ||||||
| ATP6V0A1_chr17_42453878_42527579 | 42468843 | CTATTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(92): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0006t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(76): Show | 95 | 320 | 0.2969 | -5 | c.294 others(20): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V0A1_chr17_42453878_42527579 | 42485539 | GTTTGT | G | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0003t0001 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0013g0116others(1): Show | 4 | 320 | 0.0125 | -5 | c.811 others(22): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V0A1_chr17_42453878_42527579 | 42501338 | CTTTTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00733.hp2 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0200others(12): Show | 18 | 320 | 0.0563 | -5 | c.200 others(20): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123708979 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01169.hp1 HG01243.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0028others(17): Show | 20 | 222 | 0.0901 | -5 | c.-35 others(16): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3373 | chr12 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138707197 | TATATA | T | intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG03098.hp2 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0011others(1): Show | a0001c0001t0001a0003c0004t0001a0004c0011t0001others(1): Show | a0001c0001t0001g0048a0003c0004t0001g0022a0004c0011t0001g0060others(1): Show | 4 | 376 | 0.0106 | -5 | c.243 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138717557 | AAAAAG | A | intron_variant | MODIFIER | HG01074.hp1 HG02976.hp1 HG03139.hp2 |
a0001a0005 | a0001c0023a0005c0034 | a0001c0023t0001a0005c0034t0001 | a0001c0023t0001g0336a0001c0023t0001g0350a0005c0034t0001g0008 | 3 | 376 | 0.0080 | -5 | c.214 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138717908 | GGAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0052others(84): Show | 87 | 376 | 0.2314 | -5 | c.214 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138733572 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 HG01169.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0004others(7): Show | a0001c0001t0001g0250a0001c0001t0001g0270a0001c0001t0001g0277others(11): Show | 14 | 376 | 0.0372 | -5 | c.169 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 16/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138758143 | TCAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0020a0001c0001t0001g0098a0001c0001t0001g0106others(43): Show | 46 | 376 | 0.1223 | -5 | c.639 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138758739 | ATTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG02027.hp1 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0013others(10): Show | a0001c0001t0001a0001c0007t0001a0001c0013t0001others(11): Show | a0001c0001t0001g0020a0001c0001t0001g0047a0001c0001t0001g0080others(26): Show | 29 | 376 | 0.0771 | -5 | c.639 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138781838 | TCTCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(149): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0027a0001c0001t0001g0033a0001c0001t0001g0051others(149): Show | 152 | 376 | 0.4043 | -5 | c.-18 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
| ATP6V0D2_chr8_86093910_86159225 | 86115358 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(100): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(97): Show | 103 | 360 | 0.2861 | -5 | c.302 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86125417 | GTTTTA | G | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315a0001c0001t0002g0316a0001c0001t0002g0317 | 3 | 360 | 0.0083 | -5 | c.302 others(24): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86145374 | GAAAGA | G | intron_variant | MODIFIER | HG01358.hp2 HG02622.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146a0001c0001t0002g0234a0001c0001t0002g0235 | 3 | 360 | 0.0083 | -5 | c.639 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86151751 | CTTTCT | C | intron_variant | MODIFIER | HG01167.hp1 HG01981.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147a0001c0001t0002g0177a0001c0001t0002g0232others(4): Show | 7 | 360 | 0.0194 | -5 | c.891 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0E1_chr5_172978771_173040445 | 172990949 | TTTTTG | T | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0002g0012a0001c0001t0002g0013others(3): Show | 6 | 292 | 0.0206 | -5 | c.105 others(22): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATP6V1A_chr3_113742035_113817056 | 113747010 | GCCCCC | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0009others(20): Show | 26 | 312 | 0.0833 | -5 | c.-11 others(14): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 24 | chr3 | TogoVar |