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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB11_chr2_168915781_169036324 | 169003323 | C | CGTGT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01255.hp2 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(20): Show | a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 others(54): Show |
57 | 247 | 0.2308 | 4 | c.390 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169016962 | G | GTCTC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(101): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(32): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(53): Show | a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 others(101): Show |
104 | 304 | 0.3421 | 4 | c.77- others(17): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169016979 | T | TACAC | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG01884.hp1 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(18): Show | a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0173 others(29): Show |
32 | 116 | 0.2759 | 4 | c.77- others(17): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87516731 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0006a0009others(1): Show | a0001c0003a0001c0006a0006c0011others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0001others(3): Show | a0001c0003t0001g0109 a0001c0003t0001g0161 a0001c0003t0001g0164 others(28): Show |
31 | 196 | 0.1582 | 4 | c.292 others(19): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530830 | C | CAAGA | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0065 a0001c0001t0004g0049 a0001c0001t0004g0182 others(3): Show |
6 | 318 | 0.0189 | 4 | c.268 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530838 | C | CAAGA | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp2 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0119 a0001c0001t0001g0191 a0001c0001t0003g0024 others(9): Show |
15 | 241 | 0.0622 | 4 | c.268 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530842 | A | AAAGC | intron_variant | MODIFIER | HG01192.hp2 HG01258.hp2 HG01261.hp1 others(12): Show |
a0001a0002a0010others(2): Show | a0001c0006a0002c0002a0002c0009others(4): Show | a0001c0006t0004a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0006t0004g0103 a0002c0002t0001g0147 a0002c0002t0001g0168 others(12): Show |
15 | 350 | 0.0429 | 4 | c.268 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGA | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(10): Show | a0001c0001t0001g0250 a0001c0001t0001g0305 a0001c0001t0001g0306 others(18): Show |
21 | 221 | 0.0950 | 4 | c.118 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87415348 | T | TAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0022 others(171): Show |
196 | 288 | 0.6806 | 4 | c.268 others(23): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87426944 | A | AGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp2 others(67): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 others(60): Show |
70 | 140 | 0.5000 | 4 | c.189 others(19): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 15/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87433669 | G | GTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01934.hp2 HG02155.hp2 others(6): Show |
a0002 | a0002c0005a0002c0009a0002c0012 | a0002c0005t0001a0002c0009t0001a0002c0012t0001 | a0002c0005t0001g0044 a0002c0005t0001g0051 a0002c0005t0001g0052 others(6): Show |
9 | 282 | 0.0319 | 4 | c.173 others(23): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87441408 | T | TATAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp2 others(38): Show |
a0002 | a0002c0004a0002c0005a0002c0009others(5): Show | a0002c0004t0001a0002c0005t0001a0002c0009t0001others(5): Show | a0002c0004t0001g0003 a0002c0004t0001g0008 a0002c0004t0001g0009 others(33): Show |
41 | 288 | 0.1424 | 4 | c.135 others(23): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 12/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87451139 | A | ATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0006a0001c0026others(10): Show | a0001c0002t0001a0001c0002t0003a0001c0006t0001others(11): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 others(83): Show |
104 | 263 | 0.3954 | 4 | c.708 others(19): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 7/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87460620 | T | TTTTA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(12): Show |
a0001a0002 | a0001c0007a0002c0005 | a0001c0007t0001a0002c0005t0001 | a0001c0007t0001g0036 a0001c0007t0001g0039 a0001c0007t0001g0047 others(12): Show |
15 | 287 | 0.0523 | 4 | c.286 others(21): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 4/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87460622 | G | GTATT | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00738.hp2 others(24): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0208 others(23): Show |
27 | 213 | 0.1268 | 4 | c.286 others(21): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 4/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87473726 | A | AGTGT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(89): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0007others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(7): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 others(72): Show |
92 | 253 | 0.3636 | 4 | c.81- others(19): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 2/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20615582 | C | CGTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(56): Show |
a0001a0002a0004others(22): Show | a0001c0001a0001c0005a0002c0003others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(35): Show | a0001c0001t0001g0116 a0001c0001t0001g0248 a0001c0001t0002g0069 others(56): Show |
59 | 133 | 0.4436 | 4 | c.-27 others(13): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 84 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20618764 | C | CTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01978.hp1 others(10): Show |
a0002a0007a0010others(1): Show | a0002c0003a0002c0012a0002c0014others(4): Show | a0002c0003t0003a0002c0003t0011a0002c0012t0003others(5): Show | a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0030 others(10): Show |
13 | 73 | 0.1781 | 4 | c.-22 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20626852 | G | GGGGT | intron_variant | MODIFIER | HG02135.hp1 HG02165.hp2 NA18970.hp1 others(1): Show |
a0003a0008a0037 | a0003c0002a0008c0009a0037c0055 | a0003c0002t0001a0008c0009t0001a0037c0055t0001 | a0003c0002t0001g0194 a0008c0009t0001g0190 a0008c0009t0001g0195 others(1): Show |
4 | 358 | 0.0112 | 4 | c.108 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20626854 | G | GGTGT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00673.hp2 others(22): Show |
a0001a0003a0004others(10): Show | a0001c0001a0003c0002a0004c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(15): Show | a0001c0001t0001g0116 a0001c0001t0001g0325 a0001c0001t0002g0217 others(22): Show |
25 | 189 | 0.1323 | 4 | c.108 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20626856 | T | TGTGC | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02615.hp2 others(7): Show |
a0002a0007a0012others(3): Show | a0002c0012a0002c0041a0007c0011others(7): Show | a0002c0012t0001a0002c0041t0001a0007c0011t0004others(7): Show | a0002c0012t0001g0123 a0002c0041t0001g0122 a0007c0011t0004g0128 others(7): Show |
10 | 297 | 0.0337 | 4 | c.108 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20629037 | A | AAAAT | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01261.hp2 others(2): Show |
a0001a0004a0022 | a0001c0005a0004c0004a0004c0008others(1): Show | a0001c0005t0001a0004c0004t0001a0004c0008t0002others(1): Show | a0001c0005t0001g0224 a0001c0005t0001g0327 a0004c0004t0001g0226 others(2): Show |
5 | 358 | 0.0140 | 4 | c.259 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20629145 | C | CGTGT | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01175.hp2 others(17): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0012a0003c0002others(9): Show | a0001c0001t0001a0002c0012t0001a0002c0012t0003others(11): Show | a0001c0001t0001g0296 a0002c0012t0001g0082 a0002c0012t0001g0090 others(17): Show |
20 | 40 | 0.5000 | 4 | c.259 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20633014 | T | TAATA | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG03041.hp1 others(1): Show |
a0007a0016a0019others(1): Show | a0007c0016a0016c0071a0019c0072others(1): Show | a0007c0016t0006a0016c0071t0001a0019c0072t0013others(1): Show | a0007c0016t0006g0059 a0016c0071t0001g0356 a0019c0072t0013g0058 others(1): Show |
4 | 357 | 0.0112 | 4 | c.314 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20633072 | C | CAAAT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp2 others(113): Show |
a0002a0005a0007others(30): Show | a0002c0003a0002c0012a0002c0014others(44): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(60): Show | a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0016 others(113): Show |
116 | 358 | 0.3240 | 4 | c.314 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20634238 | T | TTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00609.hp1 others(27): Show |
a0001a0002a0004others(13): Show | a0001c0001a0002c0003a0002c0012others(17): Show | a0001c0001t0001a0002c0003t0003a0002c0012t0001others(20): Show | a0001c0001t0001g0239 a0002c0003t0003g0024 a0002c0012t0001g0123 others(27): Show |
30 | 121 | 0.2479 | 4 | c.314 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20665724 | A | AAGAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(114): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0005a0001c0064others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(72): Show | a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0222 others(113): Show |
117 | 271 | 0.4317 | 4 | 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 | 20665768 | G | GATAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0002a0003others(40): Show | a0001c0001a0001c0005a0001c0061others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(82): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0116 others(217): Show |
222 | 346 | 0.6416 | 4 | 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 | 20674749 | T | TACAC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(79): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0005a0002c0003others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0232 a0001c0001t0001g0275 others(77): Show |
82 | 161 | 0.5093 | 4 | 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 | 20676161 | T | TACAC | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG03688.hp1 others(4): Show |
a0011a0015a0028others(3): Show | a0011c0013a0015c0021a0028c0034others(3): Show | a0011c0013t0001a0015c0021t0014a0028c0034t0001others(4): Show | a0011c0013t0001g0104 a0015c0021t0014g0109 a0028c0034t0001g0114 others(4): Show |
7 | 333 | 0.0210 | 4 | 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 | 20676167 | T | TACAC | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00738.hp2 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0002c0012others(13): Show | a0001c0001t0001a0001c0005t0001a0002c0012t0001others(15): Show | a0001c0001t0001g0208 a0001c0001t0001g0325 a0001c0005t0001g0246 others(23): Show |
26 | 160 | 0.1625 | 4 | 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 | 20683558 | T | TTAAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp2 others(8): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0275 a0001c0001t0002g0273 others(6): Show |
11 | 358 | 0.0307 | 4 | c.186 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20691582 | T | TTTTA | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02280.hp1 others(5): Show |
a0002a0004a0005others(5): Show | a0002c0003a0004c0004a0005c0015others(5): Show | a0002c0003t0003a0004c0004t0002a0005c0015t0004others(5): Show | a0002c0003t0003g0006 a0004c0004t0002g0118 a0005c0015t0004g0215 others(5): Show |
8 | 68 | 0.1176 | 4 | c.201 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20710381 | A | AAAGG | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(57): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0003others(22): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0138 a0001c0001t0001g0233 others(57): Show |
60 | 247 | 0.2429 | 4 | c.242 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20711778 | C | CTCTT | intron_variant | MODIFIER | HG01106.hp1 HG01258.hp1 HG01358.hp2 others(8): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0008a0005c0006others(4): Show | a0001c0001t0002a0004c0008t0001a0005c0006t0001others(5): Show | a0001c0001t0002g0266 a0004c0008t0001g0143 a0005c0006t0001g0141 others(8): Show |
11 | 294 | 0.0374 | 4 | c.242 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20717883 | C | CTTTT | intron_variant | MODIFIER | HG01361.hp2 HG01981.hp1 HG02647.hp1 others(7): Show |
a0001a0005a0006others(5): Show | a0001c0001a0001c0061a0005c0015others(6): Show | a0001c0001t0001a0001c0061t0001a0005c0015t0004others(6): Show | a0001c0001t0001g0241 a0001c0001t0001g0296 a0001c0061t0001g0267 others(7): Show |
10 | 30 | 0.3333 | 4 | c.242 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20724199 | C | CTTAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(320): Show |
a0001a0002a0003others(61): Show | a0001c0001a0001c0005a0001c0061others(94): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(132): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0116 others(318): Show |
323 | 358 | 0.9022 | 4 | c.262 others(22): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20726358 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01175.hp2 others(6): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0003a0004c0004others(5): Show | a0001c0001t0001a0002c0003t0001a0004c0004t0002others(5): Show | a0001c0001t0001g0116 a0002c0003t0001g0347 a0004c0004t0002g0277 others(6): Show |
9 | 35 | 0.2571 | 4 | c.262 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20731369 | A | AAAAT | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG03490.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0001a0002c0003t0003a0003c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0238 a0001c0001t0001g0270 others(10): Show |
14 | 54 | 0.2593 | 4 | c.286 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20731369 | A | AATAT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(31): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0002c0012others(12): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(16): Show | a0001c0001t0001g0233 a0001c0001t0001g0281 a0001c0001t0002g0273 others(31): Show |
34 | 74 | 0.4595 | 4 | c.286 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20731385 | T | TACAC | intron_variant | MODIFIER | HG02135.hp2 NA18612.hp2 NA18949.hp2 others(1): Show |
a0009a0013a0062others(1): Show | a0009c0018a0013c0022a0062c0081others(1): Show | a0009c0018t0008a0013c0022t0021a0062c0081t0008others(1): Show | a0009c0018t0008g0312 a0013c0022t0021g0161 a0062c0081t0008g0106 others(1): Show |
4 | 357 | 0.0112 | 4 | c.286 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20749139 | T | TCCTC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(55): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0002c0003others(18): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0007others(21): Show | a0001c0001t0002g0069 a0001c0001t0002g0217 a0001c0001t0002g0244 others(54): Show |
58 | 358 | 0.1620 | 4 | c.342 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20749395 | A | ATTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(77): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0005a0002c0003others(44): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0011others(48): Show | a0001c0001t0002g0217 a0001c0001t0002g0244 a0001c0001t0002g0250 others(76): Show |
80 | 281 | 0.2847 | 4 | c.343 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20750383 | T | TACAC | intron_variant | MODIFIER | HG00621.hp2 HG01361.hp1 HG02145.hp1 others(25): Show |
a0001a0005a0007others(16): Show | a0001c0001a0005c0015a0007c0011others(18): Show | a0001c0001t0001a0005c0015t0004a0007c0011t0004others(20): Show | a0001c0001t0001g0056 a0001c0001t0001g0222 a0005c0015t0004g0274 others(25): Show |
28 | 240 | 0.1167 | 4 | c.343 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20757258 | C | CCCAT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02965.hp2 others(1): Show |
a0002a0036 | a0002c0014a0002c0035a0002c0048others(1): Show | a0002c0014t0011a0002c0035t0005a0002c0048t0012others(1): Show | a0002c0014t0011g0012 a0002c0035t0005g0093 a0002c0048t0012g0062 others(1): Show |
4 | 358 | 0.0112 | 4 | c.*16 others(15): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 251 | chr7 | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75047062 | G | GACAC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(89): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(89): Show |
92 | 152 | 0.6053 | 4 | c.*63 others(15): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3985 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75069860 | T | TTTTA | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0160 others(8): Show |
11 | 230 | 0.0478 | 4 | c.136 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 10/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75094019 | C | CATAT | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01258.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0025 others(39): Show |
43 | 130 | 0.3308 | 4 | c.453 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTT | intron_variant | MODIFIER | HG01975.hp2 HG02486.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0152 a0001c0001t0002g0092 a0001c0001t0004g0101 others(3): Show |
6 | 27 | 0.2222 | 4 | c.334 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75111601 | C | CTATT | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0011a0001c0003t0016 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(6): Show |
9 | 230 | 0.0391 | 4 | c.333 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar |