view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA1_chr9_104776006_104933155 | 104909607 | TACACAC | T | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01175.hp2 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0035a0001c0092others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(26): Show | a0001c0001t0004g0248 a0001c0001t0006g0280 a0001c0001t0012g0036 others(29): Show |
33 | 119 | 0.2773 | -6 | c.-92 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137027915 | AGGGCAG | A | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01074.hp2 others(35): Show |
a0001a0008a0010 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(19): Show |
38 | 318 | 0.1195 | -6 | c.66+ others(19): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 1/48 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | TCACACA | T | intron_variant | MODIFIER | HG00609.hp1 HG01978.hp2 HG04184.hp1 others(1): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0094 a0001c0002t0001g0050 a0001c0004t0001g0040 others(1): Show |
4 | 40 | 0.1000 | -6 | c.251 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2298617 | CCTCTCT | C | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0001t0014a0001c0002t0001others(1): Show | a0001c0001t0004g0008 a0001c0001t0014g0249 a0001c0002t0001g0187 others(1): Show |
4 | 236 | 0.0169 | -6 | c.174 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94079249 | TCACACA | T | intron_variant | MODIFIER | HG01928.hp1 HG02257.hp1 HG02486.hp2 others(2): Show |
a0016a0031a0033others(2): Show | a0016c0090a0031c0100a0033c0102others(2): Show | a0016c0090t0003a0031c0100t0001a0033c0102t0001others(2): Show | a0016c0090t0003g0031 a0031c0100t0001g0290 a0033c0102t0001g0012 others(2): Show |
5 | 230 | 0.0217 | -6 | c.123 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 9/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94081226 | AAACAAC | A | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02559.hp1 others(6): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0004a0004c0039others(4): Show | a0001c0001t0001a0001c0004t0001a0004c0039t0001others(4): Show | a0001c0001t0001g0267 a0001c0004t0001g0194 a0001c0004t0001g0234 others(6): Show |
9 | 304 | 0.0296 | -6 | c.859 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 7/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94091579 | TCACACA | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01884.hp1 others(22): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(15): Show | a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0105 others(22): Show |
25 | 58 | 0.4310 | -6 | c.768 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116962 | TTCTTTC | T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01071.hp2 others(5): Show |
a0001a0002a0014others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0003t0001g0226 others(5): Show |
8 | 304 | 0.0263 | -6 | c.67- others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124143 | TTTTTTG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00738.hp2 others(5): Show |
a0001a0009a0012 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0210 a0001c0001t0001g0244 a0001c0001t0001g0252 others(5): Show |
8 | 304 | 0.0263 | -6 | c.-31 others(17): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2996 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274839 | CTTTTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0338 a0005c0007t0006g0339 a0005c0007t0006g0340 others(5): Show |
8 | 27 | 0.2963 | -6 | c.259 others(23): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293867 | TGTGTGC | T | intron_variant | MODIFIER | HG01261.hp1 HG01516.hp1 HG03017.hp1 others(7): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001a0001c0008t0019 | a0001c0002t0001g0056 a0001c0002t0001g0065 a0001c0002t0001g0066 others(7): Show |
10 | 348 | 0.0287 | -6 | c.149 others(23): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69082328 | AACACAC | A | intron_variant | MODIFIER | HG01069.hp2 HG02559.hp1 HG02647.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0090 others(5): Show |
8 | 101 | 0.0792 | -6 | c.461 others(23): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 36/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | AATATAT | A | intron_variant | MODIFIER | HG01346.hp1 HG01928.hp1 HG02109.hp2 others(9): Show |
a0002a0007a0018 | a0002c0002a0007c0006a0018c0022 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0224 a0002c0002t0002g0225 a0002c0002t0002g0236 others(9): Show |
12 | 55 | 0.2182 | -6 | c.393 others(23): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68904291 | AAATAAT | A | intron_variant | MODIFIER | HG01069.hp2 HG02145.hp1 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 a0001c0002t0001g0051 a0001c0002t0001g0089 |
3 | 135 | 0.0222 | -6 | c.239 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68911734 | TACACAC | T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02071.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0154 a0001c0001t0001g0213 a0001c0002t0001g0241 others(21): Show |
24 | 115 | 0.2087 | -6 | c.213 others(25): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68919108 | ATTAGAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp2 HG02602.hp2 others(10): Show |
a0001a0023 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0048 others(10): Show |
13 | 272 | 0.0478 | -6 | c.178 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 14/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTT | C | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02976.hp1 others(7): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0179 a0001c0002t0001g0126 others(7): Show |
10 | 50 | 0.2000 | -6 | c.150 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68937848 | CATTATT | C | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG02145.hp2 others(16): Show |
a0003a0005a0008others(3): Show | a0003c0008a0003c0026a0003c0029others(7): Show | a0003c0008t0001a0003c0026t0001a0003c0029t0001others(7): Show | a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 others(15): Show |
19 | 272 | 0.0699 | -6 | c.302 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 4/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944316 | TTATATA | T | intron_variant | MODIFIER | HG01978.hp1 HG02486.hp1 |
a0001a0016 | a0001c0001a0016c0015 | a0001c0001t0001a0016c0015t0001 | a0001c0001t0001g0043 a0016c0015t0001g0013 |
2 | 151 | 0.0132 | -6 | c.-5- others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68971484 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0021others(6): Show | a0001c0001t0001a0001c0007t0001a0001c0021t0003others(9): Show | a0001c0001t0001g0062 a0001c0001t0001g0169 a0001c0001t0001g0172 others(44): Show |
48 | 72 | 0.6667 | -6 | c.*44 others(17): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3003 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68989256 | TCACACA | T | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02717.hp2 others(13): Show |
a0001a0003a0010others(1): Show | a0001c0007a0003c0003a0010c0011others(1): Show | a0001c0007t0004a0003c0003t0004a0003c0003t0013others(2): Show | a0001c0007t0004g0091 a0003c0003t0004g0005 a0003c0003t0004g0006 others(11): Show |
16 | 132 | 0.1212 | -6 | c.395 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69015969 | TTGTGTG | T | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG02145.hp1 others(16): Show |
a0004a0011a0014 | a0004c0005a0011c0014a0014c0015 | a0004c0005t0003a0011c0014t0003a0014c0015t0003 | a0004c0005t0003g0001 a0004c0005t0003g0263 a0004c0005t0003g0264 others(12): Show |
19 | 144 | 0.1319 | -6 | c.303 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69016119 | TATATAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG04115.hp2 others(5): Show |
a0001a0002a0023 | a0001c0007a0002c0002a0023c0031 | a0001c0007t0001a0002c0002t0002a0023c0031t0002 | a0001c0007t0001g0156 a0002c0002t0002g0009 a0002c0002t0002g0076 others(4): Show |
8 | 304 | 0.0263 | -6 | c.303 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69046875 | CTATATA | C | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02738.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0004t0002others(1): Show | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(6): Show |
9 | 22 | 0.4091 | -6 | c.305 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69050343 | AACACAC | A | intron_variant | MODIFIER | HG01175.hp2 HG01978.hp2 HG02040.hp1 others(6): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0006a0007c0010t0002 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0180 others(5): Show |
9 | 45 | 0.2000 | -6 | c.96+ others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | TAAAAAA | T | intron_variant | MODIFIER | HG02004.hp1 HG02647.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0002a0001c0012a0001c0016 | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(1): Show | a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 others(7): Show |
10 | 99 | 0.1010 | -6 | c.134 others(25): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168921846 | CTTTTCT | C | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG02486.hp2 HG02976.hp2 others(5): Show |
a0001a0002 | a0001c0016a0001c0039a0002c0020others(3): Show | a0001c0016t0008a0001c0016t0033a0001c0039t0008others(5): Show | a0001c0016t0008g0295 a0001c0016t0033g0293 a0001c0039t0008g0298 others(5): Show |
8 | 304 | 0.0263 | -6 | c.*17 others(17): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 28/28 | 1770 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169016979 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01069.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0004others(8): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0004others(11): Show | a0001c0001t0001g0245 a0002c0003t0001g0001 a0002c0003t0001g0017 others(13): Show |
17 | 101 | 0.1683 | -6 | c.77- others(19): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87592859 | CCTAAGA | C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0010 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0024 a0001c0001t0003g0027 others(8): Show |
13 | 350 | 0.0371 | -6 | c.117 others(23): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87463246 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0006a0001c0007others(13): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(13): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 others(97): Show |
117 | 263 | 0.4449 | -6 | c.136 others(21): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20615582 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG03225.hp2 HG03831.hp2 NA18612.hp1 others(13): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0005a0004c0008others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(5): Show | a0001c0001t0001g0138 a0001c0001t0001g0231 a0001c0001t0001g0232 others(13): Show |
16 | 90 | 0.1778 | -6 | c.-27 others(15): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 84 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20626854 | GGTGTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01515.hp1 others(7): Show |
a0001a0002a0007others(5): Show | a0001c0001a0001c0005a0002c0012others(6): Show | a0001c0001t0001a0001c0005t0001a0002c0012t0001others(7): Show | a0001c0001t0001g0056 a0001c0005t0001g0353 a0002c0012t0001g0358 others(7): Show |
10 | 174 | 0.0575 | -6 | c.108 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20629145 | CGTGTGT | C | intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 NA18939.hp2 others(1): Show |
a0002a0012 | a0002c0003a0002c0014a0002c0041others(1): Show | a0002c0003t0003a0002c0014t0001a0002c0041t0001others(1): Show | a0002c0003t0003g0004 a0002c0014t0001g0196 a0002c0041t0001g0122 others(1): Show |
4 | 24 | 0.1667 | -6 | c.259 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20655085 | AAGAGAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00673.hp1 others(60): Show |
a0002a0007a0010others(8): Show | a0002c0003a0002c0012a0002c0014others(18): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0007others(27): Show | a0002c0003t0001g0347 a0002c0003t0003g0004 a0002c0003t0003g0006 others(60): Show |
63 | 357 | 0.1765 | -6 | c.153 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20676160 | CTACACA | C | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02615.hp2 others(8): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0012a0002c0041others(8): Show | a0001c0001t0001a0002c0012t0001a0002c0041t0001others(8): Show | a0001c0001t0001g0344 a0002c0012t0001g0123 a0002c0041t0001g0122 others(8): Show |
11 | 358 | 0.0307 | -6 | c.170 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20678610 | CAAAACA | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01981.hp1 others(7): Show |
a0001a0005a0008others(6): Show | a0001c0001a0005c0015a0008c0009others(6): Show | a0001c0001t0001a0005c0015t0004a0008c0009t0002others(7): Show | a0001c0001t0001g0270 a0005c0015t0004g0055 a0008c0009t0002g0177 others(7): Show |
10 | 357 | 0.0280 | -6 | c.170 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20681010 | CTTTCTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 HG02717.hp1 others(2): Show |
a0002a0006a0007others(2): Show | a0002c0003a0006c0007a0007c0016others(2): Show | a0002c0003t0009a0006c0007t0001a0007c0016t0001others(2): Show | a0002c0003t0009g0014 a0006c0007t0001g0307 a0007c0016t0001g0117 others(2): Show |
5 | 356 | 0.0140 | -6 | c.170 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20691168 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00673.hp1 others(11): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(8): Show | a0001c0001t0001g0138 a0001c0001t0002g0266 a0001c0005t0001g0254 others(11): Show |
14 | 41 | 0.3415 | -6 | c.201 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20711780 | CTTTCTT | C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02922.hp1 others(1): Show |
a0007a0014a0027 | a0007c0011a0014c0024a0027c0028 | a0007c0011t0004a0014c0024t0004a0027c0028t0001 | a0007c0011t0004g0128 a0014c0024t0004g0209 a0014c0024t0004g0210 others(1): Show |
4 | 326 | 0.0123 | -6 | c.242 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20717883 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(49): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0064others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(30): Show | a0001c0001t0001g0056 a0001c0001t0001g0137 a0001c0001t0001g0222 others(48): Show |
52 | 72 | 0.7222 | -6 | c.242 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20719942 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp2 HG02056.hp1 HG02135.hp2 others(3): Show |
a0003a0004a0008others(3): Show | a0003c0053a0004c0008a0008c0009others(3): Show | a0003c0053t0001a0004c0008t0006a0008c0009t0001others(3): Show | a0003c0053t0001g0237 a0004c0008t0006g0120 a0008c0009t0001g0190 others(3): Show |
6 | 97 | 0.0619 | -6 | c.242 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75094048 | ATATATC | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0137 a0001c0001t0001g0184 a0001c0001t0009g0185 |
3 | 230 | 0.0130 | -6 | c.453 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75138223 | TACACAC | T | intron_variant | MODIFIER | HG02129.hp1 HG02559.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0119 a0001c0001t0004g0112 others(5): Show |
8 | 23 | 0.3478 | -6 | c.168 others(25): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB8_chr7_151023450_151052782 | 151029503 | CTTTTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(95): Show |
a0001a0005a0007others(4): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(19): Show | a0001c0001t0001g0123 a0001c0002t0002g0091 a0001c0002t0003g0003 others(50): Show |
98 | 398 | 0.2462 | -6 | c.95+ others(19): Show |
ABCB8 | ENSG00000197150.13 | transcript | ENST00000358849.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB8_chr7_151023450_151052782 | 151050846 | CCCCCAG | C | downstream_gene_variant | MODIFIER | HG00438.hp2 NA18948.hp2 NA18953.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0011 a0002c0003t0004g0035 |
6 | 398 | 0.0151 | -6 | c.*54 others(17): Show |
ABCB8 | ENSG00000197150.13 | transcript | ENST00000358849.9 | protein_coding | 3065 | chr7 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48199672 | ATTTTTT | A | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01109.hp2 others(9): Show |
a0003a0004a0010others(1): Show | a0003c0006a0004c0017a0010c0010others(1): Show | a0003c0006t0004a0004c0017t0001a0010c0010t0008others(1): Show | a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(9): Show |
12 | 25 | 0.4800 | -6 | c.208 others(23): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 15/29 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48098090 | GACACAC | G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 NA21309.hp1 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0010 | a0001c0001t0001g0032 a0009c0008t0010g0014 a0009c0008t0010g0015 |
3 | 71 | 0.0423 | -6 | c.303 others(25): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 23/30 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48098134 | CACACAG | C | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp2 |
a0015 | a0015c0020 | a0015c0020t0005 | a0015c0020t0005g0007 | 2 | 132 | 0.0152 | -6 | c.303 others(25): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 23/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15944841 | GTTATTA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(49): Show | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 others(111): Show |
114 | 184 | 0.6196 | -6 | c.-49 others(17): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4774 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16005663 | AGTTATG | A | intron_variant | MODIFIER | HG02886.hp1 HG03453.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0020others(1): Show | a0001c0001t0003g0008 a0001c0001t0010g0087 a0001c0001t0020g0102 others(1): Show |
4 | 248 | 0.0161 | -6 | c.49- others(21): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar |