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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP5MGL_chr22_42634803_42645601 | 42640334 | GACCCTGC others(40): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0000 | 1 | 374 | 0.0027 | -47 | c.-10 others(55): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 61 | chr22 | TogoVar | |||||
ATP5MGL_chr22_42634803_42645601 | 42640350 | C | CTTAT | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0000 | 6 | 374 | 0.0160 | 4 | c.-80 others(11): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | TogoVar | |||||
ATP5MGL_chr22_42634803_42645601 | 42640350 | CTTAT | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(145): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0002g0000a0001c0001t0004g0000a0001c0001t0007g0000others(6): Show | 148 | 374 | 0.3957 | -4 | c.-80 others(11): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | 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 | |||||
ATP5MGL_chr22_42634803_42645601 | 42640350 | CTTATTTA others(5): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02080.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0023 | a0001c0001t0009g0000a0001c0001t0023g0000 | 9 | 374 | 0.0241 | -12 | c.-88 others(19): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | TogoVar | |||||
ATP5MGL_chr22_42634803_42645601 | 42640350 | CTTATTTA others(9): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0010 | a0001c0001t0010g0000a0002c0003t0010g0000 | 7 | 374 | 0.0187 | -16 | c.-92 others(23): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | TogoVar | |||||
ATP5MGL_chr22_42634803_42645601 | 42640350 | CTTATTTA others(13): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02809.hp2 HG03098.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0000 | 4 | 374 | 0.0107 | -20 | c.-96 others(27): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 77 | chr22 | TogoVar | |||||
ATP5MGL_chr22_42634803_42645601 | 42640464 | C | T | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(122): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008a0001c0002t0011others(5): Show | a0001c0002t0001g0000a0001c0002t0008g0000a0001c0002t0011g0000others(5): Show | 125 | 374 | 0.3342 | 0 | c.-19 others(4): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 190 | chr22 | TogoVar | |||||
ATP5MGL_chr22_42634803_42645601 | 42640545 | A | T | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02970.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0016 | a0001c0002t0011g0000a0001c0002t0016g0000 | 8 | 374 | 0.0214 | 0 | c.-27 others(4): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 271 | chr22 | TogoVar | |||||
ATP5MJ_chr14_103907288_103926529 | 103921506 | A | G | 5_prime_UTR_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0044 | 1 | 440 | 0.0023 | 0 | c.-37 others(3): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/4 | 6317 | chr14 | TogoVar | |||||
ATP5MK_chr10_103384050_103401475 | 103396023 | G | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01167.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 7 | 438 | 0.0160 | 0 | c.-28 others(4): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 2/5 | 3566 | chr10 | TogoVar | |||||
ATP5PB_chr1_111444464_111467773 | 111449473 | C | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(261): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(83): Show | 264 | 434 | 0.6083 | 0 | c.-69 others(3): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 1/7 | 69 | chr1 | TogoVar | |||||
ATP5PB_chr1_111444464_111467773 | 111449509 | A | T | 5_prime_UTR_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0082 | 1 | 434 | 0.0023 | 0 | c.-33 others(3): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 1/7 | 33 | chr1 | TogoVar | |||||
ATP5PB_chr1_111444464_111467773 | 111449521 | C | G | 5_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0011 | a0001c0001t0008g0026a0001c0001t0008g0034a0001c0001t0008g0045others(1): Show | 9 | 434 | 0.0207 | 0 | c.-21 others(3): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 1/7 | 21 | chr1 | TogoVar | |||||
ATP5PD_chr17_75033863_75051969 | 75042651 | T | C | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(157): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0009others(49): Show | 160 | 428 | 0.3738 | 0 | c.-1A others(2): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 2/6 | 1 | chr17 | TogoVar | |||||
ATP5PF_chr21_25719500_25739904 | 25734891 | A | G | 5_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0022a0001c0001t0002g0037 | 10 | 416 | 0.0240 | 0 | c.-46 others(3): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/4 | 5097 | chr21 | TogoVar | |||||
ATP5PO_chr21_33898453_33920804 | 33915775 | C | A | 5_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0054 | 2 | 436 | 0.0046 | 0 | c.-12 others(3): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 1/7 | 12 | chr21 | TogoVar | |||||
ATP5PO_chr21_33898453_33920804 | 33915803 | A | G | 5_prime_UTR_variant | MODIFIER | NA18969.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 2 | 436 | 0.0046 | 0 | c.-40 others(3): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 1/7 | 40 | chr21 | TogoVar | |||||
ATP6AP2_chrX_40575970_40611848 | 40581020 | C | A | 5_prime_UTR_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 299 | 0.0033 | 0 | c.-46 others(3): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/9 | 46 | chrX | TogoVar | |||||
ATP6V0A1_chr17_42453878_42527579 | 42458922 | C | G | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004a0001c0001t0006g0031a0001c0001t0006g0037others(1): Show | 6 | 320 | 0.0188 | 0 | c.-89 others(3): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 1/22 | 1973 | chr17 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123712552 | C | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(68): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0037others(14): Show | a0001c0001t0004g0134a0001c0001t0004g0135a0001c0001t0004g0136others(60): Show | 71 | 222 | 0.3198 | 0 | c.-14 others(3): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1/20 | 14 | chr12 | TogoVar | |||||
ATP6V0A4_chr7_138701294_138803196 | 138786165 | G | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00733.hp2 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0005a0003c0004others(2): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(5): Show | a0001c0001t0005g0245a0001c0001t0005g0246a0001c0001t0008g0061others(6): Show | 9 | 376 | 0.0239 | 0 | c.-25 others(3): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/22 | 14918 | chr7 | TogoVar | |||||
ATP6V0A4_chr7_138701294_138803196 | 138798050 | G | A | 5_prime_UTR_variant | MODIFIER | HG03710.hp1 HG04115.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0012a0003c0004t0011 | a0001c0001t0012g0370a0003c0004t0011g0371 | 2 | 376 | 0.0053 | 0 | c.-13 others(4): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/22 | 26803 | chr7 | TogoVar | |||||
ATP6V0A4_chr7_138701294_138803196 | 138798112 | G | A | 5_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0007a0001c0001t0014a0001c0020t0007 | a0001c0001t0007g0374a0001c0001t0007g0375a0001c0001t0014g0376others(1): Show | 4 | 376 | 0.0106 | 0 | c.-19 others(4): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/22 | 26865 | chr7 | TogoVar | |||||
ATP6V0B_chr1_43969960_43983295 | 43974970 | A | G | 5_prime_UTR_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02572.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0005a0001c0001t0005g0012 | 14 | 396 | 0.0354 | 0 | c.-71 others(3): Show |
ATP6V0B | ENSG00000117410.14 | transcript | ENST00000472174.7 | protein_coding | 1/8 | 71 | chr1 | TogoVar | |||||
ATP6V0C_chr16_2508952_2525218 | 2513988 | C | G | 5_prime_UTR_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 336 | 0.0030 | 0 | c.-11 others(4): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/3 | 116 | chr16 | TogoVar | |||||
ATP6V0C_chr16_2508952_2525218 | 2514025 | C | A | 5_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 336 | 0.0030 | 0 | c.-79 others(3): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/3 | 79 | chr16 | TogoVar | |||||
ATP6V0C_chr16_2508952_2525218 | 2514094 | A | G | 5_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02647.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0035a0001c0001t0003g0038others(1): Show | 12 | 336 | 0.0357 | 0 | c.-10 others(3): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/3 | 10 | chr16 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86098925 | C | T | 5_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01346.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138a0001c0001t0003g0139a0001c0001t0003g0140others(27): Show | 30 | 360 | 0.0833 | 0 | c.-54 others(3): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/8 | 54 | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86098931 | A | G | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG03516.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287a0001c0001t0005g0288a0001c0001t0005g0289others(1): Show | 4 | 360 | 0.0111 | 0 | c.-48 others(3): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/8 | 48 | chr8 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 172983838 | G | A | 5_prime_UTR_variant | MODIFIER | HG03195.hp1 HG03209.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009a0001c0001t0005g0010a0001c0001t0005g0011 | 3 | 292 | 0.0103 | 0 | c.-23 others(3): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/4 | 23 | chr5 | TogoVar | |||||
ATP6V0E2_chr7_149868969_149885695 | 149874004 | C | T | 5_prime_UTR_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0002 | 1 | 438 | 0.0023 | 0 | c.-62 others(3): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 1/4 | 62 | chr7 | TogoVar | |||||
ATP6V0E2_chr7_149868969_149885695 | 149874006 | G | A | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0009others(17): Show | 57 | 438 | 0.1301 | 0 | c.-60 others(3): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 1/4 | 60 | chr7 | TogoVar | |||||
ATP6V0E2_chr7_149868969_149885695 | 149874058 | G | T | 5_prime_UTR_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0052 | 1 | 438 | 0.0023 | 0 | c.-8G others(2): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 1/4 | 8 | chr7 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70935921 | C | T | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(66): Show |
a0002a0004 | a0002c0008a0002c0010a0002c0011others(5): Show | a0002c0008t0002a0002c0010t0002a0002c0011t0002others(7): Show | a0002c0008t0002g0278a0002c0008t0002g0344a0002c0008t0002g0365others(65): Show | 69 | 440 | 0.1568 | 0 | c.-34 others(3): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 34 | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70935936 | C | T | 5_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0393a0001c0001t0006g0394a0001c0001t0006g0395others(2): Show | 5 | 440 | 0.0114 | 0 | c.-19 others(3): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 19 | chr2 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103021156 | A | T | 5_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0010a0001c0001t0020g0020 | 2 | 412 | 0.0049 | 0 | c.-10 others(4): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/13 | 19681 | chr8 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10721658 | A | T | 5_prime_UTR_variant | MODIFIER | HG01109.hp2 HG03139.hp2 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0026a0002c0002t0023a0002c0002t0024others(1): Show | a0001c0001t0026g0100a0002c0002t0023g0099a0002c0002t0024g0235others(1): Show | 4 | 354 | 0.0113 | 0 | c.-10 others(4): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 1/14 | 1192 | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10722831 | G | A | 5_prime_UTR_variant | MODIFIER | HG01070.hp2 HG02109.hp2 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0014a0002c0002t0015 | a0001c0001t0016g0220a0002c0002t0014g0222a0002c0002t0015g0221 | 3 | 354 | 0.0085 | 0 | c.-19 others(3): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2/14 | 19 | chr2 | TogoVar | |||||
ATP6V1D_chr14_67332872_67364804 | 67359765 | G | A | 5_prime_UTR_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204 | 1 | 348 | 0.0029 | 0 | c.-67 others(3): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 1/9 | 67 | chr14 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17628679 | G | A | 5_prime_UTR_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0321 | 1 | 370 | 0.0027 | 0 | c.-44 others(3): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/9 | 44 | chr22 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17628693 | G | A | 5_prime_UTR_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0322a0001c0001t0011g0323 | 2 | 370 | 0.0054 | 0 | c.-58 others(3): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/9 | 58 | chr22 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17628694 | G | A | 5_prime_UTR_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0324 | 1 | 370 | 0.0027 | 0 | c.-59 others(3): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/9 | 59 | chr22 | TogoVar | |||||
ATP6V1E2_chr2_46506847_46547577 | 46512753 | C | T | 5_prime_UTR_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0170 | 1 | 410 | 0.0024 | 0 | c.-42 others(3): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 5/5 | 42 | chr2 | TogoVar | |||||
ATP6V1E2_chr2_46506847_46547577 | 46535856 | A | G | 5_prime_UTR_variant | MODIFIER | HG02040.hp1 HG02155.hp2 NA18943.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018a0001c0001t0006g0052a0001c0001t0006g0053others(9): Show | 13 | 410 | 0.0317 | 0 | c.-14 others(4): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/5 | 23145 | chr2 | TogoVar | |||||
ATP6V1E2_chr2_46506847_46547577 | 46541404 | A | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(369): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(272): Show | 372 | 410 | 0.9073 | 0 | c.-32 others(4): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/5 | 28693 | chr2 | TogoVar | |||||
ATP6V1E2_chr2_46506847_46547577 | 46541420 | G | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(104): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0003g0002a0001c0001t0003g0010a0001c0001t0003g0013others(85): Show | 107 | 410 | 0.2610 | 0 | c.-34 others(4): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/5 | 28709 | chr2 | TogoVar | |||||
ATP6V1E2_chr2_46506847_46547577 | 46542468 | C | T | 5_prime_UTR_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 | 1 | 410 | 0.0024 | 0 | c.-62 others(4): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 1/5 | 29757 | chr2 | TogoVar | |||||
ATP6V1FNB_chr7_128861330_128877047 | 128866334 | G | C | 5_prime_UTR_variant | MODIFIER | HG02056.hp1 HG02129.hp2 HG03239.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009a0001c0001t0005g0014 | 14 | 442 | 0.0317 | 0 | c.-76 others(3): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 1/2 | 76 | chr7 | TogoVar | |||||
ATP6V1FNB_chr7_128861330_128877047 | 128866397 | T | C | 5_prime_UTR_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 442 | 0.0023 | 0 | c.-13 others(3): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 1/2 | 13 | chr7 | TogoVar |