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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA9_chr17_68969488_69065927 | 68971517 | G | GTT | downstream_gene_variant | MODIFIER | HG01346.hp1 HG02451.hp2 HG02647.hp1 others(6): Show |
a0001a0004a0016 | a0001c0008a0004c0005a0016c0017 | a0001c0008t0001a0004c0005t0003a0016c0017t0003 | a0001c0008t0001g0187 a0004c0005t0003g0001 a0004c0005t0003g0264 others(2): Show |
9 | 299 | 0.0301 | 2 | c.*43 others(13): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 2970 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68976223 | A | ATT | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG02145.hp1 others(19): Show |
a0004a0011a0016others(2): Show | a0004c0005a0011c0014a0016c0017others(2): Show | a0004c0005t0003a0011c0014t0003a0016c0017t0003others(2): Show | a0004c0005t0003g0001 a0004c0005t0003g0263 a0004c0005t0003g0264 others(15): Show |
22 | 308 | 0.0714 | 2 | c.472 others(17): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68981835 | C | CAA | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01884.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0002a0002c0004others(2): Show | a0001c0007t0004a0002c0002t0002a0002c0004t0002others(3): Show | a0001c0007t0004g0091 a0002c0002t0002g0060 a0002c0002t0002g0066 others(21): Show |
26 | 163 | 0.1595 | 2 | c.472 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68989242 | C | CCT | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02698.hp2 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0003others(3): Show | a0001c0001t0001g0261 a0002c0002t0002g0154 a0003c0003t0003g0045 others(3): Show |
6 | 302 | 0.0199 | 2 | c.395 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCA | intron_variant | MODIFIER | HG00099.hp1 HG02004.hp2 HG03704.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0029a0005c0006 | a0001c0001t0001a0001c0029t0001a0005c0006t0001 | a0001c0001t0001g0062 a0001c0001t0001g0161 a0001c0001t0001g0202 others(4): Show |
7 | 123 | 0.0569 | 2 | c.395 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68992852 | C | CGT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(28): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0021a0003c0003others(6): Show | a0001c0001t0006a0001c0021t0003a0003c0003t0004others(6): Show | a0001c0001t0006g0008 a0001c0001t0006g0054 a0001c0021t0003g0020 others(22): Show |
31 | 308 | 0.1006 | 2 | c.362 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69016119 | T | TAC | intron_variant | MODIFIER | HG00733.hp1 HG03098.hp1 NA19043.hp1 |
a0008 | a0008c0013a0008c0020 | a0008c0013t0003a0008c0020t0003 | a0008c0013t0003g0057 a0008c0013t0003g0058 a0008c0020t0003g0055 |
3 | 299 | 0.0100 | 2 | c.303 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69016123 | T | TAC | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp1 HG02080.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0205 others(15): Show |
18 | 250 | 0.0720 | 2 | c.303 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69016853 | C | CGT | intron_variant | MODIFIER | HG00733.hp1 HG02055.hp1 HG02280.hp1 others(9): Show |
a0001a0008a0010others(3): Show | a0001c0001a0001c0008a0008c0013others(5): Show | a0001c0001t0006a0001c0008t0001a0008c0013t0003others(5): Show | a0001c0001t0006g0008 a0001c0001t0006g0054 a0001c0008t0001g0162 others(8): Show |
12 | 309 | 0.0388 | 2 | c.290 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 21/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69022494 | T | TTG | intron_variant | MODIFIER | HG00733.hp1 HG01192.hp1 HG01192.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0227 a0001c0007t0001g0088 a0002c0002t0002g0070 others(7): Show |
10 | 297 | 0.0337 | 2 | c.228 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69022520 | A | ATG | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 HG03516.hp2 |
a0001a0019 | a0001c0001a0019c0023 | a0001c0001t0006a0019c0023t0003 | a0001c0001t0006g0008 a0001c0001t0006g0054 a0019c0023t0003g0018 |
3 | 298 | 0.0101 | 2 | c.228 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69022721 | C | CCT | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01346.hp1 others(27): Show |
a0001a0004a0008others(6): Show | a0001c0001a0004c0005a0008c0013others(7): Show | a0001c0001t0006a0004c0005t0003a0008c0013t0003others(7): Show | a0001c0001t0006g0008 a0001c0001t0006g0054 a0004c0005t0003g0001 others(22): Show |
30 | 310 | 0.0968 | 2 | c.228 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69033303 | C | CAA | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(14): Show |
a0001a0006a0008others(7): Show | a0001c0001a0006c0009a0008c0013others(8): Show | a0001c0001t0001a0006c0009t0005a0008c0013t0003others(8): Show | a0001c0001t0001g0017 a0006c0009t0005g0015 a0006c0009t0005g0288 others(13): Show |
17 | 49 | 0.3469 | 2 | c.127 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69046875 | C | CTA | intron_variant | MODIFIER | HG02132.hp2 HG03491.hp1 HG03492.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0011a0002c0004t0002a0003c0003t0001others(1): Show | a0001c0001t0011g0244 a0002c0004t0002g0178 a0003c0003t0001g0007 others(1): Show |
5 | 18 | 0.2778 | 2 | c.305 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69046937 | T | TTA | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(7): Show |
a0006a0008a0017others(1): Show | a0006c0009a0008c0013a0008c0020others(2): Show | a0006c0009t0005a0008c0013t0003a0008c0020t0003others(2): Show | a0006c0009t0005g0015 a0006c0009t0005g0288 a0006c0009t0005g0289 others(6): Show |
10 | 199 | 0.0503 | 2 | c.305 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69050323 | A | AAC | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0010 | a0003c0003t0001g0021 a0003c0003t0001g0032 a0003c0003t0001g0034 others(4): Show |
7 | 310 | 0.0226 | 2 | c.96+ others(15): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229512186 | T | TTA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(2): Show |
5 | 282 | 0.0177 | 2 | c.*59 others(13): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 4395 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229529295 | C | CAA | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp1 HG01257.hp1 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0105 a0001c0001t0001g0125 others(29): Show |
33 | 75 | 0.4400 | 2 | c.164 others(19): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229529667 | C | CAA | intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01258.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0003others(2): Show | a0001c0001t0001g0137 a0001c0002t0001g0043 a0001c0002t0001g0044 others(4): Show |
7 | 237 | 0.0295 | 2 | c.164 others(19): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229531947 | G | GTT | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp1 HG01978.hp2 others(10): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0131 a0001c0001t0001g0195 a0001c0002t0001g0036 others(10): Show |
13 | 183 | 0.0710 | 2 | c.134 others(19): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229534871 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(42): Show |
a0001a0003a0006 | a0001c0002a0003c0013a0006c0007 | a0001c0002t0002a0003c0013t0002a0006c0007t0002 | a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 others(38): Show |
45 | 81 | 0.5556 | 2 | c.134 others(21): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229541963 | A | AAC | intron_variant | MODIFIER | HG01106.hp1 HG02451.hp1 HG03130.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0010 a0004c0005t0005g0011 a0004c0005t0005g0012 others(3): Show |
6 | 280 | 0.0214 | 2 | c.105 others(19): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 4/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAA | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0001a0001c0002t0001a0002c0009t0003 | a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 others(3): Show |
6 | 118 | 0.0508 | 2 | c.518 others(19): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229562427 | A | AAT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(68): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(64): Show |
71 | 280 | 0.2536 | 2 | c.-37 others(13): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 3721 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168920390 | T | TTA | downstream_gene_variant | MODIFIER | HG02074.hp1 NA18961.hp1 NA18965.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0112 a0001c0001t0001g0245 a0001c0001t0001g0247 others(2): Show |
5 | 62 | 0.0806 | 2 | c.*32 others(13): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 390 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168947348 | A | ATT | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG02145.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0004others(6): Show | a0001c0001t0001g0190 a0001c0001t0014g0164 a0001c0002t0004g0174 others(8): Show |
11 | 95 | 0.1158 | 2 | c.234 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168948500 | G | GTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(157): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(28): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(45): Show | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(155): Show |
160 | 280 | 0.5714 | 2 | c.234 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168950136 | T | TAC | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01069.hp2 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0006a0001c0015others(8): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(18): Show | a0001c0002t0002g0056 a0001c0002t0002g0121 a0001c0002t0002g0131 others(55): Show |
59 | 292 | 0.2021 | 2 | c.234 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168950138 | T | TAC | intron_variant | MODIFIER | HG01496.hp2 HG02818.hp2 HG03453.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0027a0003c0014others(1): Show | a0001c0002t0004a0002c0027t0005a0003c0014t0005others(1): Show | a0001c0002t0004g0168 a0002c0027t0005g0299 a0003c0014t0005g0196 others(2): Show |
5 | 226 | 0.0221 | 2 | c.234 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168953452 | C | CTT | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG02886.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0016a0002c0056others(3): Show | a0001c0001t0001a0001c0016t0033a0002c0056t0011others(4): Show | a0001c0001t0001g0255 a0001c0001t0001g0271 a0001c0016t0033g0293 others(5): Show |
8 | 118 | 0.0678 | 2 | c.234 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168968130 | A | ATT | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp1 others(8): Show |
a0002a0003 | a0002c0012a0002c0027a0002c0028others(5): Show | a0002c0012t0007a0002c0027t0006a0002c0028t0001others(5): Show | a0002c0012t0007g0073 a0002c0027t0006g0221 a0002c0028t0001g0220 others(8): Show |
11 | 237 | 0.0464 | 2 | c.207 others(19): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAA | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02896.hp2 others(5): Show |
a0001a0008 | a0001c0002a0001c0007a0001c0016others(1): Show | a0001c0002t0004a0001c0007t0001a0001c0016t0008others(2): Show | a0001c0002t0004g0171 a0001c0002t0004g0172 a0001c0002t0004g0179 others(5): Show |
8 | 160 | 0.0500 | 2 | c.130 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168978132 | C | CTT | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01258.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0004others(4): Show | a0001c0001t0017a0001c0002t0003a0002c0004t0003others(5): Show | a0001c0001t0017g0128 a0001c0002t0003g0129 a0002c0004t0003g0195 others(5): Show |
8 | 155 | 0.0516 | 2 | c.119 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 11/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168979672 | C | CAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00741.hp2 others(25): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0002others(14): Show | a0001c0001t0001g0249 a0001c0001t0001g0276 a0001c0001t0020g0272 others(25): Show |
28 | 106 | 0.2642 | 2 | c.119 others(19): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 11/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168982767 | T | TGA | intron_variant | MODIFIER | HG02129.hp2 HG03017.hp2 HG04228.hp1 |
a0005 | a0005c0011a0005c0021 | a0005c0011t0002a0005c0021t0001 | a0005c0011t0002g0122 a0005c0021t0001g0115 a0005c0021t0001g0119 |
3 | 304 | 0.0099 | 2 | c.108 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 10/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168987989 | T | TTG | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01515.hp2 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0004others(10): Show | a0001c0001t0014a0001c0002t0021a0002c0004t0012others(13): Show | a0001c0001t0014g0164 a0001c0002t0021g0170 a0002c0004t0012g0184 others(14): Show |
17 | 304 | 0.0559 | 2 | c.909 others(19): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 9/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168995975 | T | TAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00621.hp1 others(104): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(43): Show | a0001c0001t0001g0032 a0001c0001t0001g0111 a0001c0001t0001g0112 others(102): Show |
107 | 226 | 0.4735 | 2 | c.478 others(17): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 6/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169003323 | C | CGT | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00733.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0014a0002c0003t0001others(16): Show | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0266 others(20): Show |
23 | 213 | 0.1080 | 2 | c.390 others(19): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169016979 | T | TAC | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00642.hp2 others(84): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0015others(17): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0017others(32): Show | a0001c0001t0001g0066 a0001c0001t0001g0111 a0001c0001t0001g0113 others(82): Show |
87 | 171 | 0.5088 | 2 | c.77- others(15): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169029724 | C | CTT | intron_variant | MODIFIER | HG00323.hp2 HG02071.hp1 HG02145.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0002t0004a0001c0005t0001others(13): Show | a0001c0001t0001g0137 a0001c0002t0004g0191 a0001c0005t0001g0215 others(17): Show |
20 | 148 | 0.1351 | 2 | c.-28 others(19): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169033918 | C | CAA | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02040.hp1 HG02129.hp1 others(18): Show |
a0001a0002a0014 | a0001c0007a0001c0015a0001c0016others(7): Show | a0001c0007t0001a0001c0015t0002a0001c0015t0009others(13): Show | a0001c0007t0001g0283 a0001c0007t0001g0287 a0001c0007t0001g0288 others(18): Show |
21 | 304 | 0.0691 | 2 | c.-27 others(13): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2595 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502431 | T | TTA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp2 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0018others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0068 a0001c0001t0001g0265 a0001c0001t0001g0286 others(25): Show |
28 | 348 | 0.0805 | 2 | c.*18 others(13): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 585 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502432 | T | TAA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02622.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0008a0003c0007t0008 | a0001c0001t0008g0055 a0001c0001t0008g0097 a0001c0001t0008g0098 others(2): Show |
5 | 350 | 0.0143 | 2 | c.*18 others(13): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 584 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502516 | T | TTA | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03041.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0006a0001c0018 | a0001c0001t0003a0001c0006t0004a0001c0018t0017 | a0001c0001t0003g0037 a0001c0006t0004g0327 a0001c0018t0017g0039 |
3 | 325 | 0.0092 | 2 | c.*17 others(13): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 500 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502556 | T | TTA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02723.hp2 others(3): Show |
a0001a0014 | a0001c0001a0001c0003a0014c0019 | a0001c0001t0008a0001c0001t0009a0001c0003t0009others(1): Show | a0001c0001t0008g0055 a0001c0001t0008g0097 a0001c0001t0008g0098 others(3): Show |
6 | 348 | 0.0172 | 2 | c.*16 others(13): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 460 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87517364 | T | TTC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(57): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0179 others(57): Show |
60 | 350 | 0.1714 | 2 | c.292 others(19): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87534917 | T | TAA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00639.hp1 others(44): Show |
a0001a0003a0012 | a0001c0001a0001c0005a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0125 others(44): Show |
47 | 193 | 0.2435 | 2 | c.248 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87534926 | A | AAC | intron_variant | MODIFIER | HG00738.hp2 HG02257.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0278 others(3): Show |
6 | 350 | 0.0171 | 2 | c.248 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87534945 | A | ATT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG03017.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(4): Show |
7 | 268 | 0.0261 | 2 | c.248 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87535338 | A | ATT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(97): Show |
a0001a0006a0007others(4): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0068 others(97): Show |
100 | 234 | 0.4274 | 2 | c.248 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 20/27 | chr7 | TogoVar |