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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA12_chr2_214926542_215143626 | 215051609 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01071.hp2 others(23): Show |
a0001a0018 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0024others(7): Show | a0001c0001t0002g0030a0001c0001t0002g0117a0001c0001t0002g0118others(23): Show | 26 | 198 | 0.1313 | 10 | c.507 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215071196 | C | CAAATAAA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02071.hp1 |
a0001a0015 | a0001c0002a0015c0045 | a0001c0002t0001a0015c0045t0002 | a0001c0002t0001g0156a0015c0045t0002g0162 | 2 | 198 | 0.0101 | 10 | c.164 others(27): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215087487 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0014 | a0003c0014t0006 | a0003c0014t0006g0102 | 1 | 198 | 0.0051 | 10 | c.164 others(29): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215119752 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02818.hp2 others(11): Show |
a0001a0002a0004 | a0001c0010a0001c0015a0001c0068others(6): Show | a0001c0010t0009a0001c0015t0007a0001c0015t0009others(8): Show | a0001c0010t0009g0001a0001c0015t0007g0009a0001c0015t0009g0006others(11): Show | 14 | 198 | 0.0707 | 10 | c.70- others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48201434 | C | CTTCCCAT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(22): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164a0002c0002t0002g0156a0002c0002t0002g0168others(22): Show | 25 | 178 | 0.1405 | 10 | c.287 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01167.hp2 others(18): Show |
a0001a0002a0004others(13): Show | a0001c0001a0002c0022a0004c0008others(15): Show | a0001c0001t0001a0002c0022t0004a0004c0008t0001others(17): Show | a0001c0001t0001g0004a0002c0022t0004g0163a0004c0008t0001g0149others(18): Show | 21 | 178 | 0.1180 | 10 | c.764 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48309033 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01167.hp2 others(26): Show |
a0001a0008a0009others(12): Show | a0001c0001a0001c0010a0001c0104others(18): Show | a0001c0001t0001a0001c0010t0001a0001c0104t0005others(20): Show | a0001c0001t0001g0027a0001c0001t0001g0081a0001c0001t0001g0177others(26): Show | 29 | 178 | 0.1629 | 10 | c.932 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48358222 | A | AAGGGGAG others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01952.hp2 others(20): Show |
a0002a0005a0006others(9): Show | a0002c0022a0005c0005a0005c0024others(12): Show | a0002c0022t0004a0005c0005t0003a0005c0024t0003others(13): Show | a0002c0022t0004g0163a0005c0005t0003g0090a0005c0005t0003g0102others(20): Show | 23 | 178 | 0.1292 | 10 | c.106 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 |
a0036a0087 | a0036c0098a0087c0039 | a0036c0098t0001a0087c0039t0001 | a0036c0098t0001g0069a0087c0039t0001g0003 | 2 | 178 | 0.0112 | 10 | c.118 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48410093 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02055.hp2 HG02258.hp2 others(3): Show |
a0004a0048a0061others(3): Show | a0004c0008a0048c0041a0061c0074others(3): Show | a0004c0008t0001a0048c0041t0004a0061c0074t0001others(3): Show | a0004c0008t0001g0149a0048c0041t0004g0039a0061c0074t0001g0022others(3): Show | 6 | 178 | 0.0337 | 10 | c.120 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48410977 | C | CTCTCTTT others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0055 | a0055c0049 | a0055c0049t0001 | a0055c0049t0001g0086 | 1 | 178 | 0.0056 | 10 | c.122 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411049 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0029 | a0029c0014 | a0029c0014t0005 | a0029c0014t0005g0119 | 1 | 178 | 0.0056 | 10 | c.122 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411050 | T | TCTTTCTT others(3): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0005a0024a0054others(1): Show | a0005c0024a0024c0027a0054c0048others(1): Show | a0005c0024t0003a0024c0027t0001a0024c0027t0006others(2): Show | a0005c0024t0003g0107a0024c0027t0001g0161a0024c0027t0006g0162others(2): Show | 5 | 178 | 0.0281 | 10 | c.122 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411291 | C | CTTCTTTT others(3): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18956.hp2 NA19091.hp1 |
a0004a0021 | a0004c0008a0021c0028 | a0004c0008t0005a0021c0028t0003 | a0004c0008t0005g0169a0021c0028t0003g0005a0021c0028t0003g0011 | 3 | 178 | 0.0169 | 10 | c.122 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48478310 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01975.hp1 HG01993.hp2 others(13): Show |
a0005a0010a0011others(10): Show | a0005c0005a0010c0033a0011c0044others(10): Show | a0005c0005t0003a0010c0033t0003a0011c0044t0001others(10): Show | a0005c0005t0003g0132a0010c0033t0003g0060a0010c0033t0003g0071others(13): Show | 16 | 178 | 0.0899 | 10 | c.129 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48521061 | G | GCATGCAC others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00738.hp1 others(92): Show |
a0001a0002a0003others(57): Show | a0001c0001a0002c0002a0002c0022others(65): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0004others(72): Show | a0001c0001t0002g0065a0001c0001t0004g0057a0001c0001t0004g0164others(92): Show | 95 | 178 | 0.5337 | 10 | c.140 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 53/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48521068 | C | CACACATG others(3): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02055.hp2 others(20): Show |
a0001a0002a0004others(16): Show | a0001c0103a0002c0065a0004c0079others(16): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(18): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(20): Show | 23 | 178 | 0.1292 | 10 | c.140 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 53/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48550265 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0034 | 1 | 178 | 0.0056 | 10 | c.143 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48563832 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0070 | a0070c0064 | a0070c0064t0001 | a0070c0064t0001g0127 | 1 | 178 | 0.0056 | 10 | c.143 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0061 | a0061c0074 | a0061c0074t0001 | a0061c0074t0001g0022 | 1 | 178 | 0.0056 | 10 | c.148 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104799394 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01243.hp2 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0035a0002c0017others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0208a0001c0001t0001g0238a0001c0001t0002g0233others(23): Show | 26 | 318 | 0.0818 | 10 | c.494 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862659 | C | CCCCACCC others(3): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0015 | a0002c0015t0031 | a0002c0015t0031g0084 | 1 | 318 | 0.0031 | 10 | c.422 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862679 | C | CCCCACCC others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0318 | 1 | 318 | 0.0031 | 10 | c.422 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104865515 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0004others(5): Show | a0001c0035a0002c0017a0002c0032others(6): Show | a0001c0035t0004a0002c0017t0026a0002c0032t0001others(6): Show | a0001c0035t0004g0011a0002c0017t0026g0163a0002c0032t0001g0317others(6): Show | 9 | 318 | 0.0283 | 10 | c.422 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0023 | a0023c0072 | a0023c0072t0001 | a0023c0072t0001g0309 | 1 | 318 | 0.0031 | 10 | c.421 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104888058 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0002 | a0003c0002t0050 | a0003c0002t0050g0068 | 1 | 318 | 0.0031 | 10 | c.160 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104909654 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0046 | a0002c0046t0002 | a0002c0046t0002g0154 | 1 | 318 | 0.0031 | 10 | c.-92 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104925375 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(54): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0035others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(40): Show | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0002g0074others(54): Show | 57 | 318 | 0.1793 | 10 | c.-93 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2289961 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 252 | 0.0040 | 10 | c.251 others(27): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93998713 | A | ATTTATTT others(3): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02280.hp2 HG03130.hp1 others(1): Show |
a0003a0004 | a0003c0061a0003c0072a0004c0039others(1): Show | a0003c0061t0001a0003c0072t0001a0004c0039t0001others(1): Show | a0003c0061t0001g0032a0003c0072t0001g0049a0004c0039t0001g0118others(1): Show | 4 | 306 | 0.0131 | 10 | c.648 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93998744 | T | TTTATTTT others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03225.hp2 |
a0001a0042 | a0001c0004a0042c0092 | a0001c0004t0001a0042c0092t0004 | a0001c0004t0001g0236a0042c0092t0004g0006 | 2 | 306 | 0.0065 | 10 | c.648 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93998749 | T | TTTATTTT others(3): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18522.hp2 |
a0007 | a0007c0026 | a0007c0026t0001 | a0007c0026t0001g0299a0007c0026t0001g0300 | 2 | 306 | 0.0065 | 10 | c.648 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94028930 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0039 | a0004c0039t0001 | a0004c0039t0001g0118 | 1 | 306 | 0.0033 | 10 | c.453 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94090667 | T | TTAAGCAT others(3): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 306 | 0.0033 | 10 | c.769 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69274839 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0326a0001c0004t0005g0330a0001c0004t0014g0321others(2): Show | 5 | 350 | 0.0143 | 10 | c.259 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01433.hp1 HG02257.hp1 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0003 | a0001c0002t0001g0045a0003c0003t0003g0007a0003c0003t0003g0008 | 3 | 350 | 0.0086 | 10 | c.149 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298292 | G | GAAGGAAG others(3): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0285 | 1 | 350 | 0.0029 | 10 | c.126 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGAAGGAA others(3): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02523.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0069a0002c0001t0002g0013 | 2 | 350 | 0.0057 | 10 | c.126 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0001 | a0001c0002t0001a0001c0002t0020a0001c0006t0007others(1): Show | a0001c0002t0001g0046a0001c0002t0001g0066a0001c0002t0001g0067others(11): Show | 14 | 350 | 0.0400 | 10 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG02738.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0020a0002c0001t0002 | a0001c0002t0001g0076a0001c0002t0001g0081a0001c0002t0001g0088others(4): Show | 7 | 350 | 0.0200 | 10 | c.931 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303819 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0333a0001c0010t0010g0334 | 2 | 350 | 0.0057 | 10 | c.930 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303823 | T | TATATACA others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0317 | 1 | 350 | 0.0029 | 10 | c.930 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303861 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0289 | 1 | 350 | 0.0029 | 10 | c.930 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69327145 | G | GCCGCGCG others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(42): Show |
a0001a0003a0006 | a0001c0002a0003c0003a0006c0009 | a0001c0002t0001a0003c0003t0003a0003c0003t0015others(3): Show | a0001c0002t0001g0120a0003c0003t0003g0001a0003c0003t0003g0004others(41): Show | 45 | 350 | 0.1286 | 10 | c.-11 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 13 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 HG06807.hp1 NA19054.hp2 others(1): Show |
a0002a0014a0019others(1): Show | a0002c0002a0014c0018a0019c0027others(1): Show | a0002c0002t0002a0014c0018t0002a0019c0027t0002others(1): Show | a0002c0002t0002g0251a0014c0018t0002g0058a0019c0027t0002g0200others(1): Show | 4 | 326 | 0.0123 | 10 | c.393 others(27): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69091523 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0161 | 1 | 326 | 0.0031 | 10 | c.340 others(27): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 25/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69103911 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01109.hp1 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(5): Show | a0001c0001t0001g0084a0001c0001t0001g0103a0002c0002t0002g0024others(22): Show | 30 | 326 | 0.0920 | 10 | c.274 others(27): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69134888 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01943.hp2 HG02055.hp2 others(20): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(4): Show | a0001c0001t0001g0111a0003c0003t0001g0011a0003c0003t0001g0029others(16): Show | 23 | 326 | 0.0706 | 10 | c.461 others(25): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4/38 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1048496 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0002a0003c0005t0002g0003 | 2 | 30 | 0.0667 | 10 | c.227 others(27): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA7_chr19_1035107_1070572 | 1060207 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0002 | 1 | 30 | 0.0333 | 10 | c.546 others(29): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |