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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0156 a0001c0001t0001g0169 others(2): Show |
5 | 45 | 0.1111 | 6 | c.150 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTGTG | intron_variant | MODIFIER | HG01167.hp2 HG02165.hp1 HG02698.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0185 a0001c0001t0001g0206 a0001c0001t0001g0207 others(14): Show |
17 | 42 | 0.4048 | 6 | c.466 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATA | intron_variant | MODIFIER | HG00544.hp1 HG01517.hp2 HG02071.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0001g0079 others(16): Show |
19 | 109 | 0.1743 | 6 | c.466 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944316 | T | TTATATA | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01361.hp1 others(15): Show |
a0001a0029 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0001g0092 a0001c0001t0001g0172 a0001c0001t0001g0173 others(15): Show |
18 | 167 | 0.1078 | 6 | c.-5- others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATACAC | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG02486.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0002t0001g0027 others(7): Show |
10 | 178 | 0.0562 | 6 | c.-5- others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68956352 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(119): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0017 others(119): Show |
122 | 172 | 0.7093 | 6 | c.-13 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958857 | A | ATAATAT | upstream_gene_variant | MODIFIER | HG01496.hp1 NA18953.hp1 NA18994.hp2 others(2): Show |
a0001a0006 | a0001c0003a0006c0038 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0102 a0001c0003t0002g0101 a0001c0003t0003g0098 others(2): Show |
5 | 265 | 0.0189 | 6 | c.-38 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3466 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958865 | A | ATATAAT | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02451.hp2 others(12): Show |
a0003a0005a0008others(2): Show | a0003c0008a0003c0026a0003c0029others(6): Show | a0003c0008t0001a0003c0026t0001a0003c0029t0001others(6): Show | a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 others(11): Show |
15 | 133 | 0.1128 | 6 | c.-38 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3474 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958902 | T | TATATAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG02145.hp2 others(14): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0050a0003c0008others(8): Show | a0001c0001t0001a0001c0050t0001a0003c0008t0001others(8): Show | a0001c0001t0001g0233 a0001c0050t0001g0193 a0003c0008t0001g0108 others(13): Show |
17 | 111 | 0.1532 | 6 | c.-38 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3511 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCTCACA | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 HG02630.hp2 others(6): Show |
a0003a0015 | a0003c0003a0015c0024 | a0003c0003t0003a0015c0024t0002 | a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 others(6): Show |
9 | 125 | 0.0720 | 6 | c.395 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCTCTCA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01192.hp2 others(37): Show |
a0002a0014 | a0002c0002a0002c0004a0002c0026others(1): Show | a0002c0002t0002a0002c0004t0002a0002c0026t0002others(1): Show | a0002c0002t0002g0002 a0002c0002t0002g0016 a0002c0002t0002g0066 others(35): Show |
40 | 156 | 0.2564 | 6 | c.395 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69036871 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01167.hp2 others(16): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(5): Show | a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0175 others(16): Show |
19 | 69 | 0.2754 | 6 | c.801 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01167.hp1 others(18): Show |
a0001a0003a0006 | a0001c0002a0003c0013a0006c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0002t0001g0049 a0001c0002t0002g0004 a0001c0002t0002g0058 others(17): Show |
21 | 110 | 0.1909 | 6 | c.134 others(25): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229558810 | T | TGCGCCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(110): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(106): Show |
113 | 282 | 0.4007 | 6 | c.-15 others(15): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 104 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168942222 | C | CATATTA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(164): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(30): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(50): Show | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(162): Show |
167 | 304 | 0.5493 | 6 | c.261 others(25): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 21/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168950136 | T | TACACAC | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02647.hp1 others(5): Show |
a0001a0002a0003 | a0001c0048a0001c0049a0002c0019others(4): Show | a0001c0048t0007a0001c0049t0006a0002c0019t0006others(4): Show | a0001c0048t0007g0020 a0001c0049t0006g0021 a0002c0019t0006g0075 others(5): Show |
8 | 241 | 0.0332 | 6 | c.234 others(25): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168973300 | G | GTATATA | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
a0003a0011 | a0003c0013a0003c0018a0003c0024others(3): Show | a0003c0013t0001a0003c0018t0011a0003c0018t0036others(4): Show | a0003c0013t0001g0013 a0003c0013t0001g0014 a0003c0013t0001g0089 others(7): Show |
10 | 129 | 0.0775 | 6 | c.143 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169003323 | C | CGTGTGT | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG02523.hp1 others(14): Show |
a0001a0002a0015 | a0001c0002a0001c0005a0001c0006others(5): Show | a0001c0002t0005a0001c0005t0001a0001c0005t0017others(8): Show | a0001c0002t0005g0253 a0001c0005t0001g0200 a0001c0005t0001g0202 others(14): Show |
17 | 207 | 0.0821 | 6 | c.390 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169016979 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG01515.hp2 others(8): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0004others(5): Show | a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0010g0181 others(8): Show |
11 | 95 | 0.1158 | 6 | c.77- others(19): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87534917 | T | TAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 HG01952.hp1 others(17): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0006a0001c0001t0008a0001c0003t0001others(9): Show | a0001c0001t0006g0066 a0001c0001t0008g0055 a0001c0003t0001g0156 others(17): Show |
20 | 166 | 0.1205 | 6 | c.248 others(25): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87568242 | C | CAATAAT | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG04199.hp2 |
a0001a0002 | a0001c0001a0001c0018a0002c0010 | a0001c0001t0006a0001c0018t0017a0002c0010t0002 | a0001c0001t0006g0061 a0001c0018t0017g0039 a0002c0010t0002g0070 |
3 | 166 | 0.0181 | 6 | c.339 others(23): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 5/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGAGA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01106.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(4): Show | a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 others(13): Show |
16 | 216 | 0.0741 | 6 | c.118 others(23): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589849 | G | GGAGAGA | intron_variant | MODIFIER | HG00738.hp2 HG02257.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0278 others(1): Show |
4 | 339 | 0.0118 | 6 | c.118 others(23): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87426944 | A | AGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0179 a0001c0001t0001g0230 others(18): Show |
21 | 91 | 0.2308 | 6 | c.189 others(21): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 15/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20615582 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01169.hp2 others(30): Show |
a0002a0005a0007others(4): Show | a0002c0003a0002c0012a0002c0014others(13): Show | a0002c0003t0003a0002c0003t0009a0002c0012t0003others(15): Show | a0002c0003t0003g0025 a0002c0003t0003g0027 a0002c0003t0003g0028 others(30): Show |
33 | 107 | 0.3084 | 6 | c.-27 others(15): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 84 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20626854 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp2 others(23): Show |
a0001a0002a0004others(12): Show | a0001c0001a0002c0012a0002c0035others(15): Show | a0001c0001t0002a0002c0012t0001a0002c0035t0001others(17): Show | a0001c0001t0002g0069 a0002c0012t0001g0082 a0002c0012t0001g0090 others(23): Show |
26 | 190 | 0.1368 | 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 | C | CGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(87): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0002c0012others(28): Show | a0001c0001t0001a0001c0005t0001a0002c0012t0001others(35): Show | a0001c0001t0001g0208 a0001c0001t0001g0231 a0001c0001t0001g0232 others(87): Show |
90 | 110 | 0.8182 | 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 | 20634238 | T | TTGTGTG | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00738.hp1 others(56): Show |
a0002a0006a0007others(13): Show | a0002c0003a0002c0012a0002c0014others(20): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(29): Show | a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0016 others(56): Show |
59 | 150 | 0.3933 | 6 | c.314 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20667668 | T | TCTGCCC | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01257.hp2 others(1): Show |
a0020a0021 | a0020c0038a0021c0039 | a0020c0038t0016a0020c0038t0020a0021c0039t0001 | a0020c0038t0016g0350 a0020c0038t0020g0352 a0021c0039t0001g0349 others(1): Show |
4 | 22 | 0.1818 | 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 | 20674749 | T | TACACAC | intron_variant | MODIFIER | HG02135.hp2 HG02257.hp2 HG02615.hp2 others(14): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(11): Show | a0001c0001t0001g0056 a0001c0001t0001g0325 a0001c0001t0002g0295 others(14): Show |
17 | 96 | 0.1771 | 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 | 20675369 | G | GGGTGCA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(31): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0012a0002c0035others(20): Show | a0001c0001t0001a0002c0012t0001a0002c0035t0005others(21): Show | a0001c0001t0001g0344 a0002c0012t0001g0082 a0002c0012t0001g0123 others(31): Show |
34 | 358 | 0.0950 | 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 | 20679471 | C | CAAAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02886.hp2 others(5): Show |
a0001a0007a0012others(2): Show | a0001c0001a0007c0011a0012c0026others(4): Show | a0001c0001t0001a0007c0011t0004a0012c0026t0006others(4): Show | a0001c0001t0001g0056 a0001c0001t0001g0292 a0007c0011t0004g0128 others(5): Show |
8 | 24 | 0.3333 | 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 | 20707801 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(41): Show |
a0001a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0061others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0264 a0001c0001t0001g0290 others(40): Show |
44 | 53 | 0.8302 | 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 | 20711776 | T | TTCTCTC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(132): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0005a0001c0061others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(65): Show | a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0222 others(130): Show |
135 | 305 | 0.4426 | 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 | 20711786 | T | TTCTCTC | intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 HG03195.hp2 others(4): Show |
a0002a0006a0007others(2): Show | a0002c0014a0006c0007a0007c0047others(2): Show | a0002c0014t0001a0002c0014t0003a0006c0007t0001others(3): Show | a0002c0014t0001g0196 a0002c0014t0003g0003 a0006c0007t0001g0302 others(4): Show |
7 | 229 | 0.0306 | 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 | 20726358 | C | CTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02559.hp2 others(8): Show |
a0001a0002a0003others(6): Show | a0001c0005a0002c0014a0003c0002others(6): Show | a0001c0005t0001a0002c0014t0001a0003c0002t0001others(6): Show | a0001c0005t0001g0235 a0002c0014t0001g0196 a0002c0014t0001g0197 others(8): Show |
11 | 37 | 0.2973 | 6 | c.262 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20749395 | A | ATTTTTT | intron_variant | MODIFIER | HG02135.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
a0002a0007a0009others(3): Show | a0002c0003a0007c0070a0009c0018others(3): Show | a0002c0003t0009a0007c0070t0009a0009c0018t0008others(3): Show | a0002c0003t0009g0014 a0007c0070t0009g0007 a0009c0018t0008g0312 others(3): Show |
6 | 207 | 0.0290 | 6 | c.343 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75047062 | G | GACACAC | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00738.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0128 a0001c0001t0001g0129 others(18): Show |
21 | 81 | 0.2593 | 6 | c.*63 others(17): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3985 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75094019 | C | CATATAT | intron_variant | MODIFIER | HG01261.hp1 HG01952.hp1 HG01978.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0117 others(27): Show |
30 | 117 | 0.2564 | 6 | c.453 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75122861 | G | GGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00735.hp1 others(49): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0046 a0001c0001t0002g0048 others(48): Show |
52 | 61 | 0.8525 | 6 | c.169 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75138223 | T | TACACAC | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0220 a0001c0003t0006g0221 a0001c0003t0006g0222 others(1): Show |
4 | 19 | 0.2105 | 6 | c.168 others(25): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75153756 | G | GTATATA | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0002g0048 others(3): Show |
6 | 29 | 0.2069 | 6 | c.168 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75156899 | T | TCACACA | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01981.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0015g0215 |
3 | 135 | 0.0222 | 6 | c.-63 others(15): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 617 | chrX | TogoVar | |||||||
ABCC10_chr6_43422541_43455427 | 43437433 | C | CAAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0029 a0001c0001t0001g0141 a0001c0001t0001g0143 others(5): Show |
9 | 60 | 0.1500 | 6 | c.187 others(23): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCC11_chr16_48160773_48252539 | 48169966 | T | TTGTTGC | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01070.hp1 others(43): Show |
a0003a0006a0007others(6): Show | a0003c0006a0003c0018a0003c0023others(11): Show | a0003c0006t0004a0003c0018t0002a0003c0018t0018others(13): Show | a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(38): Show |
46 | 156 | 0.2949 | 6 | c.389 others(23): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 28/29 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48098090 | G | GACACAC | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02572.hp1 others(1): Show |
a0013a0014 | a0013c0017a0014c0012 | a0013c0017t0002a0014c0012t0007 | a0013c0017t0002g0109 a0013c0017t0002g0111 a0014c0012t0007g0012 |
4 | 72 | 0.0556 | 6 | c.303 others(25): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 23/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTATATA | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01175.hp2 HG01243.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0013a0001c0006t0002 | a0001c0004t0013g0047 a0001c0004t0013g0048 a0001c0006t0002g0040 |
3 | 105 | 0.0286 | 6 | c.-50 others(17): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15944841 | G | GTTATTA | upstream_gene_variant | MODIFIER | HG02922.hp2 HG04184.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0026 | a0001c0002t0008g0043 a0001c0003t0026g0033 |
2 | 72 | 0.0278 | 6 | c.-49 others(17): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4774 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15949611 | G | GCGCCGC | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02965.hp1 NA19074.hp1 |
a0001a0004 | a0001c0001a0001c0003a0004c0025 | a0001c0001t0008a0001c0003t0007a0004c0025t0006 | a0001c0001t0008g0002 a0001c0003t0007g0135 a0004c0025t0006g0001 |
3 | 53 | 0.0566 | 6 | c.-14 others(15): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15984448 | C | CGTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01243.hp1 HG02080.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0084 a0001c0001t0001g0248 a0001c0002t0001g0235 others(5): Show |
8 | 70 | 0.1143 | 6 | c.49- others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar |