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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0D2_chr8_86093910_86159225 | 86101462 | GAAAAAAA | G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0318a0001c0001t0001g0319others(5): Show | 8 | 360 | 0.0222 | -7 | c.130 others(24): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86133316 | CTTTTTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG03195.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0163a0001c0001t0001g0314a0001c0001t0001g0337others(3): Show | 6 | 360 | 0.0167 | -7 | c.303 others(24): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145363 | AAGGAAGG | A | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01433.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0001g0285a0001c0001t0001g0332others(10): Show | 13 | 360 | 0.0361 | -7 | c.639 others(24): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173032254 | TTTATTTA | T | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0053others(8): Show | 11 | 292 | 0.0377 | -7 | c.*37 others(24): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113747010 | GCCCCCCC | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01106.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(21): Show | 25 | 312 | 0.0801 | -7 | c.-11 others(16): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 24 | chr3 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113771429 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0152others(44): Show | 49 | 312 | 0.1571 | -7 | c.-13 others(24): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70940907 | CTTTTTCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00642.hp1 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(66): Show | 78 | 440 | 0.1773 | -7 | c.119 others(24): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70964112 | GTATTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG02145.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0013others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0025a0001c0001t0001g0029others(16): Show | 21 | 440 | 0.0477 | -7 | c.114 others(24): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103047456 | ACACACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0033 | a0001c0001t0009g0011a0001c0001t0009g0042a0001c0001t0009g0243others(2): Show | 9 | 412 | 0.0218 | -7 | c.201 others(24): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10723837 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(167): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0016others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0144others(166): Show | 170 | 354 | 0.4802 | -7 | c.129 others(22): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10743991 | AAAAAAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(124): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(122): Show | 127 | 354 | 0.3588 | -7 | c.198 others(24): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10757003 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00735.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0014 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0344a0002c0002t0001g0092a0002c0002t0001g0184others(6): Show | 9 | 354 | 0.0254 | -7 | c.283 others(24): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1D_chr14_67332872_67364804 | 67362011 | TTTTTTTC | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01123.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008a0001c0001t0001g0019a0001c0001t0001g0020others(20): Show | 35 | 348 | 0.1006 | -7 | c.-23 others(18): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 2208 | chr14 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01516.hp2 HG01517.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0077a0001c0001t0003g0308a0001c0001t0003g0310others(4): Show | 7 | 370 | 0.0189 | -7 | c.-30 others(18): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755733 | TATATATA | T | intron_variant | MODIFIER | HG02572.hp1 NA18959.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0170a0001c0001t0001g0189a0001c0001t0001g0235others(1): Show | 4 | 286 | 0.0140 | -7 | c.127 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755735 | TATATATA | T | intron_variant | MODIFIER | HG02132.hp1 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034a0001c0001t0001g0193a0001c0001t0001g0199others(1): Show | 4 | 286 | 0.0140 | -7 | c.127 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755737 | TATATATA | T | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0057a0001c0001t0001g0179others(2): Show | 5 | 286 | 0.0175 | -7 | c.127 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53765451 | AACAACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01071.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0049a0001c0001t0001g0192others(12): Show | 15 | 286 | 0.0525 | -7 | c.117 others(26): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53827508 | TGAACACA | T | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(12): Show | 15 | 286 | 0.0525 | -7 | c.306 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77907783 | GGAAAGTC | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02572.hp1 others(15): Show |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0005a0001c0001t0003g0015a0001c0001t0003g0016others(15): Show | 18 | 233 | 0.0773 | -7 | c.-30 others(18): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2909 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77956726 | CCTTTCTT | C | intron_variant | MODIFIER | HG03540.hp2 | a0011 | a0011c0015 | a0011c0015t0005 | a0011c0015t0005g0127 | 1 | 233 | 0.0043 | -7 | c.-21 others(26): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78008537 | CAGCGGGA | C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 233 | 0.0043 | -7 | c.170 others(24): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7B_chr13_51927669_52016450 | 51968863 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01256.hp1 others(4): Show |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0005a0005c0006t0004a0005c0006t0024 | a0003c0003t0005g0157a0005c0006t0004g0009a0005c0006t0004g0121others(3): Show | 7 | 302 | 0.0232 | -7 | c.154 others(24): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 3/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42435443 | AAAAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp1 others(120): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0027a0001c0001t0002g0014a0001c0001t0002g0015others(120): Show | 123 | 310 | 0.3968 | -7 | c.312 others(26): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42448828 | GTTTTTTT | G | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0001t0004g0076a0001c0002t0003g0188a0001c0002t0004g0013others(11): Show | 14 | 310 | 0.0452 | -7 | c.289 others(26): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555127 | ATCTATCT | A | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01496.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0017a0001c0003t0003 | a0001c0001t0002g0149a0001c0001t0017g0080a0001c0001t0017g0081others(1): Show | 4 | 310 | 0.0129 | -7 | c.141 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531300 | TATATATG | T | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0018a0001c0003t0061a0001c0005t0021 | a0001c0003t0018g0057a0001c0003t0061g0055a0001c0005t0021g0030 | 3 | 122 | 0.0246 | -7 | c.420 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25534321 | GGTTGGGA | G | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp2 |
a0001 | a0001c0010 | a0001c0010t0012a0001c0010t0056 | a0001c0010t0012g0091a0001c0010t0056g0006 | 2 | 122 | 0.0164 | -7 | c.507 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 6/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25761633 | AATATAAT | A | intron_variant | MODIFIER | HG02630.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0001 | a0001c0001t0016g0104a0001c0002t0001g0060 | 2 | 122 | 0.0164 | -7 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0125a0001c0001t0003g0239others(16): Show | 19 | 314 | 0.0605 | -7 | c.182 others(26): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57733897 | ACACTTAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(306): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(306): Show | 309 | 314 | 0.9841 | -7 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57761090 | TAAAATAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(55): Show |
a0001a0003a0011 | a0001c0001a0001c0014a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0035a0001c0001t0001g0058a0001c0001t0001g0059others(55): Show | 58 | 314 | 0.1847 | -7 | c.-25 others(26): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50085973 | TATATCAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(61): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0111others(61): Show | 64 | 254 | 0.2520 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086275 | TAATATAG | T | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235a0001c0001t0003g0236a0001c0001t0003g0237 | 3 | 254 | 0.0118 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086415 | TAATATAG | T | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG03579.hp1 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0002a0009c0009t0001a0009c0009t0024 | a0001c0001t0002g0006a0009c0009t0001g0187a0009c0009t0024g0186 | 3 | 254 | 0.0118 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086481 | TAATATAG | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG02004.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0003g0122a0001c0001t0003g0123a0002c0002t0001g0228others(5): Show | 8 | 254 | 0.0315 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086586 | TAATATAG | T | intron_variant | MODIFIER | HG00423.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(6): Show | a0001c0001t0001g0111a0001c0001t0001g0117a0001c0001t0002g0021others(8): Show | 11 | 254 | 0.0433 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50107932 | GCCTGAGA | G | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp2 NA18522.hp2 |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0010c0012t0002 | a0001c0001t0001g0089a0001c0001t0001g0090a0010c0012t0002g0051 | 3 | 254 | 0.0118 | -7 | c.-42 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51661526 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01515.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(8): Show | a0001c0001t0001g0147a0001c0001t0008g0082a0001c0001t0009g0004others(13): Show | 16 | 312 | 0.0513 | -7 | c.129 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51711852 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(38): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(21): Show | a0001c0001t0001g0287a0001c0001t0011g0139a0001c0001t0011g0163others(38): Show | 41 | 312 | 0.1314 | -7 | c.436 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 4/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51718814 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0014others(2): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0059others(5): Show | a0001c0001t0003g0125a0001c0001t0013g0060a0001c0001t0059g0256others(5): Show | 8 | 312 | 0.0256 | -7 | c.328 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51754095 | CCCTGGAG | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0015a0001c0001t0001g0077a0001c0001t0001g0193others(69): Show | 72 | 312 | 0.2308 | -7 | c.68+ others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79118390 | GTTTTTTT | G | intron_variant | MODIFIER | NA18942.hp1 NA18952.hp2 NA18992.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(3): Show | 6 | 298 | 0.0201 | -7 | c.558 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79147243 | CAGTTACA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(89): Show |
a0002a0006a0007others(4): Show | a0002c0002a0002c0005a0002c0032others(7): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(13): Show | a0002c0002t0002g0173a0002c0002t0002g0174a0002c0002t0002g0175others(89): Show | 92 | 298 | 0.3087 | -7 | c.726 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79199762 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(27): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(101): Show | 105 | 298 | 0.3524 | -7 | c.954 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79348263 | AAAAAAAC | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0195a0005c0009t0005g0165a0005c0009t0005g0166others(3): Show | 6 | 298 | 0.0201 | -7 | c.290 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79354568 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158a0002c0002t0001g0159a0002c0002t0001g0160others(5): Show | 8 | 298 | 0.0269 | -7 | c.290 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79371370 | TAAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(61): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0003a0001c0003t0002a0001c0003t0003others(17): Show | a0001c0001t0003g0072a0001c0003t0002g0149a0001c0003t0003g0112others(61): Show | 64 | 298 | 0.2148 | -7 | c.301 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115234592 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(9): Show | a0001c0001t0002g0015a0001c0001t0008g0023a0001c0001t0008g0030others(10): Show | 13 | 128 | 0.1016 | -7 | c.153 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115545234 | CAAAAAAA | C | intron_variant | MODIFIER | HG01071.hp2 HG01515.hp2 HG02055.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0098a0001c0001t0001g0120a0001c0001t0001g0124others(8): Show | 11 | 128 | 0.0859 | -7 | c.371 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |