| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA1_chr9_104776006_104933155 | 104783947 | T | C | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 NA19084.hp2 |
a0003a0006 | a0003c0009a0006c0004 | a0003c0009t0051a0006c0004t0045 | a0003c0009t0051g0145a0006c0004t0045g0155 | 2 | 318 | 0.0063 | 0 | c.*36 others(4): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 50/50 | 368 | chr9 | TogoVar | |||||
| ABCA1_chr9_104776006_104933155 | 104783993 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01257.hp1 others(6): Show |
a0003a0005a0007others(3): Show | a0003c0002a0003c0009a0005c0084others(4): Show | a0003c0002t0014a0003c0009t0046a0005c0084t0014others(6): Show | a0003c0002t0014g0066a0003c0009t0046g0219a0005c0084t0014g0215others(6): Show | 9 | 318 | 0.0283 | -1 | c.*32 others(5): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 50/50 | 321 | chr9 | TogoVar | |||||
| ABCA1_chr9_104776006_104933155 | 104784219 | A | G | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG02818.hp1 HG02895.hp2 others(4): Show |
a0002a0004a0008 | a0002c0015a0002c0033a0002c0081others(2): Show | a0002c0015t0013a0002c0015t0031a0002c0033t0032others(3): Show | a0002c0015t0013g0305a0002c0015t0013g0306a0002c0015t0031g0084others(4): Show | 7 | 318 | 0.0220 | 0 | c.*96 others(3): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 50/50 | 96 | chr9 | TogoVar | |||||
| ABCA1_chr9_104776006_104933155 | 104784240 | C | T | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 | a0008 | a0008c0048 | a0008c0048t0030 | a0008c0048t0030g0022 | 1 | 318 | 0.0031 | 0 | c.*75 others(3): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 50/50 | 75 | chr9 | TogoVar | |||||
| ABCA2_chr9_137002234_137033237 | 137007439 | A | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(175): Show | 294 | 320 | 0.9188 | 0 | c.*49 others(4): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 49/49 | 490 | chr9 | TogoVar | |||||
| ABCA2_chr9_137002234_137033237 | 137007538 | G | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01346.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0014 | a0001c0001t0004a0001c0007t0004a0001c0014t0004 | a0001c0001t0004g0032a0001c0007t0004g0050a0001c0014t0004g0158 | 4 | 320 | 0.0125 | 0 | c.*39 others(4): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 49/49 | 391 | chr9 | TogoVar | |||||
| ABCA2_chr9_137002234_137033237 | 137007632 | G | A | 3_prime_UTR_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0097 | 1 | 320 | 0.0031 | 0 | c.*29 others(4): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 49/49 | 297 | chr9 | TogoVar | |||||
| ABCA2_chr9_137002234_137033237 | 137007635 | G | A | 3_prime_UTR_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0092 | 1 | 320 | 0.0031 | 0 | c.*29 others(4): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 49/49 | 294 | chr9 | TogoVar | |||||
| ABCA2_chr9_137002234_137033237 | 137007714 | G | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0007others(13): Show | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0002t0002g0001others(40): Show | 82 | 320 | 0.2563 | 0 | c.*21 others(4): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 49/49 | 215 | chr9 | TogoVar | |||||
| ABCA2_chr9_137002234_137033237 | 137007762 | A | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(175): Show | 294 | 320 | 0.9188 | 0 | c.*16 others(4): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 49/49 | 167 | chr9 | TogoVar | |||||
| ABCA3_chr16_2270881_2345728 | 2276362 | C | A | 3_prime_UTR_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0085 | 1 | 252 | 0.0040 | 0 | c.*31 others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 33/33 | 312 | chr16 | TogoVar | |||||
| ABCA4_chr1_93987834_94126148 | 93992865 | T | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp2 others(24): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0004a0001c0081others(15): Show | a0001c0001t0002a0001c0004t0002a0001c0081t0002others(15): Show | a0001c0001t0002g0054a0001c0001t0002g0112a0001c0004t0002g0235others(24): Show | 27 | 306 | 0.0882 | 0 | c.*37 others(4): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 50/50 | 372 | chr1 | TogoVar | |||||
| ABCA4_chr1_93987834_94126148 | 93993103 | C | T | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02970.hp1 HG02976.hp2 others(2): Show |
a0003a0019a0023others(2): Show | a0003c0066a0019c0090a0023c0036others(2): Show | a0003c0066t0003a0019c0090t0003a0023c0036t0003others(2): Show | a0003c0066t0003g0206a0019c0090t0003g0047a0023c0036t0003g0068others(2): Show | 5 | 306 | 0.0163 | 0 | c.*13 others(4): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 50/50 | 134 | chr1 | TogoVar | |||||
| ABCA4_chr1_93987834_94126148 | 93993227 | G | T | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02723.hp2 |
a0003a0042 | a0003c0031a0003c0078a0042c0092 | a0003c0031t0004a0003c0078t0004a0042c0092t0004 | a0003c0031t0004g0130a0003c0078t0004g0264a0042c0092t0004g0006 | 3 | 306 | 0.0098 | 0 | c.*10 others(3): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 50/50 | 10 | chr1 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244554 | T | C | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321a0001c0004t0014g0322a0001c0004t0027g0320 | 3 | 350 | 0.0086 | 0 | c.*29 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2983 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244558 | T | G | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0323 | 1 | 350 | 0.0029 | 0 | c.*29 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2979 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244609 | A | G | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0332a0001c0010t0010g0333a0001c0010t0010g0334others(1): Show | 4 | 350 | 0.0114 | 0 | c.*29 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2928 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244667 | C | T | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0320 | 1 | 350 | 0.0029 | 0 | c.*28 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2870 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244696 | C | G | 3_prime_UTR_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0001 | a0002c0001t0022 | a0002c0001t0022g0188 | 1 | 350 | 0.0029 | 0 | c.*28 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2841 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244711 | T | C | 3_prime_UTR_variant | MODIFIER | HG03225.hp2 NA19030.hp2 |
a0003 | a0003c0003 | a0003c0003t0015 | a0003c0003t0015g0153a0003c0003t0015g0154 | 2 | 350 | 0.0057 | 0 | c.*28 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2826 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244731 | G | A | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 HG06807.hp1 |
a0004 | a0004c0005 | a0004c0005t0016 | a0004c0005t0016g0209a0004c0005t0016g0210 | 2 | 350 | 0.0057 | 0 | c.*28 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2806 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244832 | T | C | 3_prime_UTR_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0082 | 1 | 350 | 0.0029 | 0 | c.*27 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2705 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244944 | T | A | 3_prime_UTR_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0123 | 1 | 350 | 0.0029 | 0 | c.*25 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2593 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69244981 | G | A | 3_prime_UTR_variant | MODIFIER | NA20300.hp1 | a0006 | a0006c0009 | a0006c0009t0028 | a0006c0009t0028g0222 | 1 | 350 | 0.0029 | 0 | c.*25 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2556 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245000 | C | T | 3_prime_UTR_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0092 | 1 | 350 | 0.0029 | 0 | c.*25 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2537 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245262 | C | T | 3_prime_UTR_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0165 | 1 | 350 | 0.0029 | 0 | c.*22 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2275 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245306 | C | A | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0339a0005c0007t0006g0340a0005c0007t0006g0341others(5): Show | 8 | 350 | 0.0229 | 0 | c.*22 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2231 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245316 | G | GAT | 3_prime_UTR_variant | MODIFIER | NA18944.hp1 NA18949.hp1 NA18995.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0054a0001c0006t0007g0106a0001c0006t0007g0107others(1): Show | 4 | 350 | 0.0114 | 2 | c.*22 others(13): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2220 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245361 | A | C | 3_prime_UTR_variant | MODIFIER | NA18959.hp1 NA18962.hp2 NA19066.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0239a0002c0001t0009g0260a0002c0001t0009g0290others(1): Show | 4 | 350 | 0.0114 | 0 | c.*21 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2176 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245406 | A | G | 3_prime_UTR_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0001 | a0002c0001t0025 | a0002c0001t0025g0224 | 1 | 350 | 0.0029 | 0 | c.*21 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2131 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245527 | G | A | 3_prime_UTR_variant | MODIFIER | HG02027.hp1 HG02083.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0052a0001c0002t0013g0074 | 2 | 350 | 0.0057 | 0 | c.*20 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 2010 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245604 | G | A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG03195.hp2 others(1): Show |
a0001a0002a0006 | a0001c0004a0002c0001a0006c0009 | a0001c0004t0008a0002c0001t0008a0006c0009t0008 | a0001c0004t0008g0167a0002c0001t0008g0168a0006c0009t0008g0163others(1): Show | 4 | 350 | 0.0114 | 0 | c.*19 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1933 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245744 | GA | G | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0332a0001c0010t0010g0333a0001c0010t0010g0334others(1): Show | 4 | 350 | 0.0114 | -1 | c.*17 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1792 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69245977 | T | C | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0005 | a0004c0005t0029 | a0004c0005t0029g0207 | 1 | 350 | 0.0029 | 0 | c.*15 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1560 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69246104 | G | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(115): Show |
a0001a0010a0011 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(10): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(114): Show | 118 | 350 | 0.3371 | 0 | c.*14 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1433 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69246129 | G | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(5): Show | 8 | 350 | 0.0229 | 0 | c.*14 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1408 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69246410 | AG | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(112): Show |
a0001a0010a0011 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(9): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(111): Show | 115 | 350 | 0.3286 | -1 | c.*11 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1126 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69246441 | C | T | 3_prime_UTR_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0001 | a0002c0001t0024 | a0002c0001t0024g0277 | 1 | 350 | 0.0029 | 0 | c.*10 others(5): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1096 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69246548 | C | T | 3_prime_UTR_variant | MODIFIER | NA18982.hp2 | a0008 | a0008c0012 | a0008c0012t0023 | a0008c0012t0023g0278 | 1 | 350 | 0.0029 | 0 | c.*98 others(4): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 989 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69246615 | G | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0001a0003a0004others(4): Show | a0001c0002a0001c0004a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(28): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(207): Show | 212 | 350 | 0.6057 | 0 | c.*92 others(4): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 922 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69246792 | C | T | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(29): Show |
a0001a0002a0006others(1): Show | a0001c0004a0002c0001a0002c0016others(2): Show | a0001c0004t0008a0002c0001t0004a0002c0001t0008others(4): Show | a0001c0004t0008g0167a0002c0001t0004g0003a0002c0001t0004g0169others(28): Show | 32 | 350 | 0.0914 | 0 | c.*74 others(4): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 745 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69246860 | A | G | 3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0021 | a0003c0003t0021g0029 | 1 | 350 | 0.0029 | 0 | c.*67 others(4): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 677 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69247148 | A | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(115): Show |
a0001a0010a0011 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(10): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(114): Show | 118 | 350 | 0.3371 | 0 | c.*38 others(4): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 389 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69247179 | G | A | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0005 | a0004c0005t0030 | a0004c0005t0030g0208 | 1 | 350 | 0.0029 | 0 | c.*35 others(4): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 358 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69247229 | C | A | 3_prime_UTR_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0001 | a0002c0001t0031 | a0002c0001t0031g0313 | 1 | 350 | 0.0029 | 0 | c.*30 others(4): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 308 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69247320 | A | G | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0323 | 1 | 350 | 0.0029 | 0 | c.*21 others(4): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 217 | chr17 | TogoVar | |||||
| ABCA5_chr17_69239311_69332133 | 69247516 | A | C | 3_prime_UTR_variant | MODIFIER | NA18975.hp1 NA19010.hp1 NA19010.hp2 |
a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0248a0002c0001t0011g0297a0002c0001t0011g0298 | 3 | 350 | 0.0086 | 0 | c.*21 others(3): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 21 | chr17 | TogoVar | |||||
| ABCA6_chr17_69073702_69146895 | 69078931 | G | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(174): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(144): Show | 177 | 326 | 0.5429 | 0 | c.*42 others(3): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 39/39 | 42 | chr17 | TogoVar | |||||
| ABCA7_chr19_1035107_1070572 | 1065564 | G | C | 3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG02145.hp1 others(11): Show |
a0002a0004a0005others(7): Show | a0002c0003a0002c0009a0002c0011others(9): Show | a0002c0003t0001a0002c0009t0001a0002c0011t0001others(9): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | 30 | 0.4667 | 0 | c.*13 others(4): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 47/47 | 139 | chr19 | TogoVar | |||||
| ABCA8_chr17_68862289_68960392 | 68867368 | T | C | 3_prime_UTR_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0231 | 1 | 274 | 0.0037 | 0 | c.*71 others(4): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 40/40 | 717 | chr17 | TogoVar |