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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB5_chr7_20610667_20762008 | 20670380 | AG | A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp2 others(88): Show |
a0001a0002a0003others(25): Show | a0001c0001a0002c0003a0002c0014others(32): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0007others(46): Show | a0001c0001t0001g0296 a0002c0003t0003g0004 a0002c0003t0003g0006 others(88): Show |
91 | 358 | 0.2542 | -1 | c.170 others(11): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20670387 | GA | G | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00642.hp1 others(27): Show |
a0002a0007a0008others(14): Show | a0002c0012a0002c0035a0007c0011others(18): Show | a0002c0012t0001a0002c0035t0005a0007c0011t0001others(20): Show | a0002c0012t0001g0082 a0002c0012t0001g0357 a0002c0012t0001g0358 others(27): Show |
30 | 358 | 0.0838 | -1 | c.170 others(11): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20672327 | GT | G | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(39): Show |
a0001a0002a0004others(15): Show | a0001c0001a0002c0003a0002c0012others(26): Show | a0001c0001t0001a0002c0003t0003a0002c0012t0001others(28): Show | a0001c0001t0001g0344 a0002c0003t0003g0018 a0002c0012t0001g0082 others(39): Show |
42 | 358 | 0.1173 | -1 | c.170 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20678074 | GA | G | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(20): Show |
a0002a0007a0012others(8): Show | a0002c0012a0002c0035a0007c0011others(12): Show | a0002c0012t0001a0002c0035t0005a0007c0011t0001others(13): Show | a0002c0012t0001g0082 a0002c0012t0001g0357 a0002c0012t0001g0358 others(20): Show |
23 | 358 | 0.0642 | -1 | c.170 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20680569 | CA | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01069.hp1 others(35): Show |
a0001a0002a0004others(18): Show | a0001c0001a0002c0003a0002c0012others(25): Show | a0001c0001t0001a0002c0003t0003a0002c0012t0001others(27): Show | a0001c0001t0001g0344 a0002c0003t0003g0049 a0002c0012t0001g0082 others(35): Show |
38 | 324 | 0.1173 | -1 | c.170 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20684604 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp2 others(107): Show |
a0002a0003a0004others(30): Show | a0002c0003a0002c0012a0002c0014others(44): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(58): Show | a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0016 others(107): Show |
110 | 358 | 0.3073 | -1 | c.187 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20700151 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(304): Show |
a0001a0002a0003others(54): Show | a0001c0001a0001c0005a0001c0061others(88): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(121): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0116 others(302): Show |
307 | 358 | 0.8575 | -1 | c.233 others(8): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20702655 | AT | A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(20): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0003others(18): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0003others(19): Show | a0001c0001t0001g0233 a0001c0005t0001g0243 a0002c0003t0003g0016 others(20): Show |
23 | 68 | 0.3382 | -1 | c.233 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20702828 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(221): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0005a0001c0077others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(88): Show | a0001c0001t0001g0056 a0001c0001t0001g0116 a0001c0001t0001g0137 others(220): Show |
224 | 330 | 0.6788 | -1 | c.233 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20707801 | CT | C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00639.hp2 others(59): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0005a0002c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(38): Show | a0001c0001t0001g0138 a0001c0001t0001g0270 a0001c0001t0001g0292 others(59): Show |
62 | 71 | 0.8732 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20710059 | TA | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01516.hp1 others(18): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0012a0002c0048others(15): Show | a0001c0001t0001a0001c0001t0002a0002c0012t0001others(16): Show | a0001c0001t0001g0056 a0001c0001t0001g0344 a0001c0001t0002g0266 others(18): Show |
21 | 358 | 0.0587 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20710367 | CA | C | intron_variant | MODIFIER | HG00738.hp1 HG02280.hp1 HG02559.hp1 others(4): Show |
a0007a0023a0024others(4): Show | a0007c0016a0023c0093a0024c0087others(4): Show | a0007c0016t0006a0023c0093t0001a0024c0087t0001others(4): Show | a0007c0016t0006g0059 a0023c0093t0001g0081 a0024c0087t0001g0083 others(4): Show |
7 | 293 | 0.0239 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20710381 | AG | A | intron_variant | MODIFIER | HG00438.hp2 HG02056.hp1 HG02135.hp2 others(8): Show |
a0001a0003a0005others(8): Show | a0001c0001a0003c0053a0005c0015others(8): Show | a0001c0001t0010a0003c0053t0001a0005c0015t0004others(8): Show | a0001c0001t0010g0256 a0003c0053t0001g0237 a0005c0015t0004g0055 others(8): Show |
11 | 198 | 0.0556 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20711150 | GT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(191): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0005a0002c0003others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(73): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0137 others(189): Show |
194 | 358 | 0.5419 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20711466 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0005a0002c0003others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(72): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0137 others(186): Show |
191 | 347 | 0.5504 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20711844 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(176): Show |
a0001a0002a0003others(45): Show | a0001c0001a0001c0005a0001c0061others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(88): Show | a0001c0001t0001g0001 a0001c0001t0001g0116 a0001c0001t0001g0137 others(174): Show |
179 | 358 | 0.5000 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20712158 | CA | C | intron_variant | MODIFIER | HG01069.hp1 HG01169.hp1 HG01169.hp2 others(9): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0064a0002c0003others(8): Show | a0001c0001t0001a0001c0064t0001a0002c0003t0003others(8): Show | a0001c0001t0001g0264 a0001c0064t0001g0213 a0002c0003t0003g0006 others(9): Show |
12 | 145 | 0.0828 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20715726 | CT | C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02976.hp1 others(4): Show |
a0001a0007a0009others(4): Show | a0001c0001a0007c0016a0009c0018others(4): Show | a0001c0001t0001a0007c0016t0006a0009c0018t0004others(4): Show | a0001c0001t0001g0343 a0007c0016t0006g0059 a0009c0018t0004g0297 others(4): Show |
7 | 301 | 0.0233 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20716285 | CT | C | intron_variant | MODIFIER | HG00642.hp2 HG01169.hp2 HG01361.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0001a0002c0003t0003a0003c0002t0001others(3): Show | a0001c0001t0001g0296 a0002c0003t0003g0004 a0002c0003t0003g0016 others(15): Show |
18 | 358 | 0.0503 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20717437 | CT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(74): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0005a0001c0061others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(52): Show | a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0001g0241 others(74): Show |
77 | 318 | 0.2421 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20717883 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(18): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(14): Show | a0001c0001t0001g0138 a0001c0001t0010g0240 a0001c0005t0001g0235 others(18): Show |
21 | 41 | 0.5122 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20720943 | CA | C | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG02109.hp2 others(10): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0003a0003c0002others(10): Show | a0001c0001t0001a0002c0003t0003a0003c0002t0001others(10): Show | a0001c0001t0001g0344 a0002c0003t0003g0018 a0003c0002t0001g0150 others(10): Show |
13 | 68 | 0.1912 | -1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20724628 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(205): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0005a0001c0061others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(84): Show | a0001c0001t0001g0001 a0001c0001t0001g0116 a0001c0001t0001g0137 others(204): Show |
208 | 274 | 0.7591 | -1 | c.262 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20728158 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(61): Show | a0001c0001a0001c0005a0001c0061others(97): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(136): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0137 others(333): Show |
338 | 357 | 0.9468 | -1 | c.272 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20731057 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(72): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0003a0002c0012others(28): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0232 others(71): Show |
75 | 358 | 0.2095 | -1 | c.286 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20733641 | CT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG02451.hp1 others(3): Show |
a0002a0004a0005others(3): Show | a0002c0012a0004c0008a0005c0015others(3): Show | a0002c0012t0001a0004c0008t0001a0005c0015t0004others(3): Show | a0002c0012t0001g0090 a0004c0008t0001g0276 a0005c0015t0004g0215 others(3): Show |
6 | 358 | 0.0168 | -1 | c.286 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20738775 | CA | C | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02897.hp2 others(2): Show |
a0014a0018a0026 | a0014c0024a0018c0084a0026c0069others(1): Show | a0014c0024t0004a0018c0084t0004a0026c0069t0004others(1): Show | a0014c0024t0004g0209 a0014c0024t0004g0210 a0018c0084t0004g0124 others(2): Show |
5 | 358 | 0.0140 | -1 | c.286 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20739221 | AG | A | intron_variant | MODIFIER | HG02135.hp2 HG02280.hp2 HG02572.hp1 others(16): Show |
a0004a0005a0007others(10): Show | a0004c0008a0005c0015a0007c0011others(12): Show | a0004c0008t0005a0004c0008t0006a0005c0015t0004others(15): Show | a0004c0008t0005g0339 a0004c0008t0006g0120 a0005c0015t0004g0274 others(16): Show |
19 | 111 | 0.1712 | -1 | c.302 others(8): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20739513 | CA | C | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02630.hp1 others(8): Show |
a0005a0007a0009others(4): Show | a0005c0015a0007c0011a0007c0016others(6): Show | a0005c0015t0004a0007c0011t0004a0007c0016t0003others(7): Show | a0005c0015t0004g0274 a0007c0011t0004g0073 a0007c0011t0004g0128 others(8): Show |
11 | 358 | 0.0307 | -1 | c.302 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20741569 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(196): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0005a0001c0061others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(62): Show | a0001c0001t0001g0001 a0001c0001t0001g0116 a0001c0001t0001g0137 others(195): Show |
199 | 358 | 0.5559 | -1 | c.302 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20748433 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(105): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0005a0002c0003others(56): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0007others(65): Show | a0001c0001t0002g0069 a0001c0001t0002g0217 a0001c0001t0002g0244 others(104): Show |
108 | 358 | 0.3017 | -1 | c.342 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20748650 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00738.hp1 others(22): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0061others(11): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(12): Show | a0001c0001t0001g0137 a0001c0001t0001g0238 a0001c0001t0001g0290 others(22): Show |
25 | 38 | 0.6579 | -1 | c.342 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20753105 | GA | G | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp2 HG03041.hp1 |
a0019a0043a0050 | a0019c0072a0043c0067a0050c0059 | a0019c0072t0013a0043c0067t0006a0050c0059t0003 | a0019c0072t0013g0058 a0043c0067t0006g0219 a0050c0059t0003g0013 |
3 | 358 | 0.0084 | -1 | c.343 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20757528 | CT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG02615.hp1 HG02630.hp2 others(15): Show |
a0004a0005a0006others(10): Show | a0004c0004a0005c0015a0006c0007others(13): Show | a0004c0004t0024a0005c0015t0004a0006c0007t0001others(14): Show | a0004c0004t0024g0142 a0005c0015t0004g0055 a0006c0007t0001g0313 others(15): Show |
18 | 294 | 0.0612 | -1 | c.*19 others(6): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 521 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20757977 | TC | T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01258.hp2 others(41): Show |
a0001a0002a0004others(23): Show | a0001c0001a0002c0003a0002c0014others(33): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0009others(36): Show | a0001c0001t0001g0345 a0002c0003t0003g0021 a0002c0003t0003g0033 others(41): Show |
44 | 358 | 0.1229 | -1 | c.*23 others(6): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 970 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20760384 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(207): Show |
a0001a0002a0003others(40): Show | a0001c0001a0001c0005a0001c0061others(62): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(75): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0116 others(206): Show |
210 | 256 | 0.8203 | -1 | c.*47 others(6): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3377 | chr7 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219207157 | TG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(62): Show |
294 | 341 | 0.8622 | -1 | c.*27 others(6): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 2614 | chr2 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219211621 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(58): Show |
320 | 337 | 0.9496 | -1 | c.196 others(9): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 14/18 | chr2 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219217920 | TA | T | intron_variant | MODIFIER | HG01168.hp2 NA18939.hp1 NA18977.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0002t0003g0078 |
7 | 313 | 0.0224 | -1 | c.550 others(8): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219223087 | CT | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp1 others(42): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0016t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0002t0002g0003 others(14): Show |
45 | 330 | 0.1364 | -1 | c.-44 others(6): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 4130 | chr2 | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75052777 | CA | C | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0011a0001c0003t0016 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(6): Show |
9 | 213 | 0.0423 | -1 | c.*59 others(5): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 16/16 | 592 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75055553 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(109): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0025 others(108): Show |
112 | 203 | 0.5517 | -1 | c.204 others(10): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 15/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75056676 | CA | C | intron_variant | MODIFIER | HG02615.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0158 a0001c0001t0013g0159 |
2 | 230 | 0.0087 | -1 | c.204 others(10): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 15/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75057778 | TG | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(114): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(113): Show |
117 | 230 | 0.5087 | -1 | c.204 others(10): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 15/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75064460 | CA | C | 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 | -1 | c.183 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 13/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75072926 | AT | A | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0152 a0001c0001t0002g0053 a0001c0001t0009g0035 others(6): Show |
9 | 230 | 0.0391 | -1 | c.103 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 8/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75077916 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0191 others(2): Show |
5 | 219 | 0.0228 | -1 | c.454 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75083614 | CA | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01109.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0013a0001c0001t0015a0001c0003t0006others(3): Show | a0001c0001t0013g0158 a0001c0001t0013g0159 a0001c0001t0015g0215 others(27): Show |
30 | 229 | 0.1310 | -1 | c.454 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75085851 | AT | A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(23): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0006a0001c0003t0011a0001c0003t0016others(1): Show | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(23): Show |
26 | 203 | 0.1281 | -1 | c.454 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75088846 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(121): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(120): Show |
124 | 221 | 0.5611 | -1 | c.453 others(10): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar |