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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA13_chr7_48166458_48652497 | 48565214 | CTTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0039a0057others(2): Show | a0007c0011a0039c0110a0057c0036others(2): Show | a0007c0011t0007a0039c0110t0007a0057c0036t0007others(2): Show | a0007c0011t0007g0165a0039c0110t0007g0126a0057c0036t0007g0083others(2): Show | 5 | 178 | 0.0281 | -3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48576866 | ACAT | A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02572.hp1 others(11): Show |
a0005a0006a0007others(8): Show | a0005c0024a0006c0063a0007c0102others(8): Show | a0005c0024t0001a0006c0063t0001a0007c0102t0001others(9): Show | a0005c0024t0001g0018a0006c0063t0001g0010a0007c0102t0001g0020others(11): Show | 14 | 178 | 0.0787 | -3 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48577261 | AAAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(33): Show | 36 | 178 | 0.2023 | -3 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48590258 | GAAT | G | intron_variant | MODIFIER | HG02886.hp1 HG06807.hp1 NA18906.hp1 |
a0007a0039a0057 | a0007c0011a0039c0110a0057c0036 | a0007c0011t0007a0039c0110t0007a0057c0036t0007 | a0007c0011t0007g0165a0039c0110t0007g0126a0057c0036t0007g0083 | 3 | 178 | 0.0169 | -3 | c.146 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 57/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104781415 | TAAC | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(76): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0108others(31): Show | a0001c0001t0002a0001c0001t0043a0001c0001t0052others(43): Show | a0001c0001t0002g0074a0001c0001t0002g0137a0001c0001t0002g0233others(76): Show | 79 | 318 | 0.2484 | -3 | c.*28 others(14): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 50/50 | 2897 | chr9 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104807914 | ATTG | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(79): Show |
a0002a0004a0005others(10): Show | a0002c0011a0002c0025a0002c0031others(30): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(61): Show | a0002c0011t0004g0112a0002c0011t0004g0263a0002c0011t0007g0119others(79): Show | 82 | 318 | 0.2579 | -3 | c.427 others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104837131 | AAGG | A | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01081.hp2 others(50): Show |
a0002a0004a0005others(8): Show | a0002c0046a0004c0087a0004c0112others(22): Show | a0002c0046t0002a0004c0087t0009a0004c0112t0005others(38): Show | a0002c0046t0002g0154a0004c0087t0009g0118a0004c0112t0005g0098others(50): Show | 53 | 318 | 0.1667 | -3 | c.119 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 10/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104843793 | ATCT | A | intron_variant | MODIFIER | HG01106.hp1 HG02280.hp1 HG03098.hp2 others(5): Show |
a0002a0003a0004others(3): Show | a0002c0037a0002c0046a0003c0077others(5): Show | a0002c0037t0001a0002c0046t0002a0003c0077t0005others(5): Show | a0002c0037t0001g0275a0002c0046t0002g0154a0003c0077t0005g0312others(5): Show | 8 | 318 | 0.0252 | -3 | c.813 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862644 | CGGG | C | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG02886.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0025a0002c0046others(3): Show | a0001c0001t0001a0002c0025t0007a0002c0046t0002others(4): Show | a0001c0001t0001g0291a0002c0025t0007g0237a0002c0046t0002g0154others(4): Show | 7 | 318 | 0.0220 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862649 | CGGG | C | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG02027.hp2 others(5): Show |
a0002a0003a0006others(2): Show | a0002c0025a0003c0002a0006c0004others(2): Show | a0002c0025t0008a0003c0002t0002a0006c0004t0003others(2): Show | a0002c0025t0008g0285a0003c0002t0002g0041a0006c0004t0003g0190others(5): Show | 8 | 318 | 0.0252 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862654 | CGGG | C | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 NA18906.hp1 others(4): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0046a0004c0008others(3): Show | a0001c0001t0001a0002c0046t0002a0004c0008t0006others(3): Show | a0001c0001t0001g0195a0001c0001t0001g0291a0002c0046t0002g0154others(4): Show | 7 | 318 | 0.0220 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862659 | CGGG | C | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01433.hp1 others(6): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0025a0003c0002others(4): Show | a0001c0001t0002a0002c0025t0007a0003c0002t0002others(5): Show | a0001c0001t0002g0074a0002c0025t0007g0237a0003c0002t0002g0041others(6): Show | 9 | 318 | 0.0283 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862664 | CGGG | C | intron_variant | MODIFIER | HG01081.hp2 HG01496.hp2 HG02145.hp2 others(6): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0017a0002c0025others(4): Show | a0001c0001t0006a0002c0017t0015a0002c0025t0008others(4): Show | a0001c0001t0006g0047a0002c0017t0015g0101a0002c0025t0008g0285others(6): Show | 9 | 318 | 0.0283 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862669 | CGGG | C | intron_variant | MODIFIER | HG01106.hp2 HG01975.hp1 HG02145.hp1 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0059a0003c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0102a0001c0001t0001g0291a0001c0001t0002g0074others(12): Show | 15 | 318 | 0.0472 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862674 | CGGG | C | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01192.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0092others(11): Show | a0001c0001t0004a0001c0001t0006a0001c0005t0001others(15): Show | a0001c0001t0004g0021a0001c0001t0006g0047a0001c0005t0001g0050others(16): Show | 19 | 318 | 0.0598 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862679 | CGGG | C | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp2 HG01081.hp2 others(19): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0097a0002c0017others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0049others(15): Show | a0001c0001t0001g0088a0001c0001t0001g0203a0001c0001t0003g0089others(19): Show | 22 | 318 | 0.0692 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862684 | CGGG | C | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG02145.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0059others(2): Show | a0001c0001t0039a0001c0001t0043a0001c0005t0002others(3): Show | a0001c0001t0039g0246a0001c0001t0043g0002a0001c0005t0002g0192others(3): Show | 6 | 318 | 0.0189 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862689 | CGGG | C | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00741.hp2 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0092others(16): Show | a0001c0001t0004a0001c0005t0001a0001c0005t0002others(22): Show | a0001c0001t0004g0021a0001c0005t0001g0050a0001c0005t0002g0254others(26): Show | 29 | 318 | 0.0912 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862694 | CGGG | C | intron_variant | MODIFIER | HG02129.hp1 HG02145.hp1 HG02258.hp2 others(2): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0031a0002c0059others(2): Show | a0001c0001t0003a0002c0031t0001a0002c0059t0001others(2): Show | a0001c0001t0003g0297a0002c0031t0001g0152a0002c0059t0001g0235others(2): Show | 5 | 318 | 0.0157 | -3 | c.422 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104891966 | TAAA | T | intron_variant | MODIFIER | HG01070.hp1 HG01169.hp2 HG01515.hp1 others(20): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0011a0002c0032others(16): Show | a0001c0001t0001a0001c0001t0049a0002c0011t0004others(19): Show | a0001c0001t0001g0088a0001c0001t0049g0034a0002c0011t0004g0213others(20): Show | 23 | 318 | 0.0723 | -3 | c.67- others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104922863 | CCCA | C | intron_variant | MODIFIER | NA18985.hp1 NA18990.hp2 NA19088.hp2 |
a0001a0007 | a0001c0001a0007c0003 | a0001c0001t0012a0007c0003t0002 | a0001c0001t0012g0039a0007c0003t0002g0037a0007c0003t0002g0038 | 3 | 318 | 0.0094 | -3 | c.-93 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104932825 | CAAA | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01109.hp2 others(42): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0011a0002c0015others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(38): Show | a0001c0001t0001g0088a0001c0001t0003g0086a0001c0001t0003g0089others(42): Show | 45 | 318 | 0.1415 | -3 | c.-49 others(14): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4671 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2285133 | GCCA | G | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0219a0001c0001t0002g0191a0001c0001t0004g0008others(5): Show | 9 | 252 | 0.0357 | -3 | c.348 others(20): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 23/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2289999 | ACAC | A | intron_variant | MODIFIER | HG01952.hp1 NA18964.hp2 NA18978.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0088a0001c0002t0001g0115a0001c0002t0001g0117 | 3 | 252 | 0.0119 | -3 | c.251 others(20): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2315839 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(46): Show |
a0001a0010 | a0001c0002a0001c0006a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(5): Show | a0001c0002t0001g0001a0001c0002t0001g0045a0001c0002t0001g0046others(45): Show | 49 | 252 | 0.1944 | -3 | c.111 others(22): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316140 | GAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(47): Show |
a0001a0004a0010 | a0001c0002a0001c0003a0001c0006others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(6): Show | a0001c0002t0001g0001a0001c0002t0001g0045a0001c0002t0001g0046others(46): Show | 50 | 252 | 0.1984 | -3 | c.111 others(22): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01099.hp2 others(9): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0004a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0004g0008a0001c0003t0001g0226a0001c0003t0001g0227others(9): Show | 12 | 252 | 0.0476 | -3 | c.111 others(20): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93990877 | CTTT | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02148.hp1 others(18): Show |
a0003a0004a0006others(6): Show | a0003c0015a0003c0020a0003c0031others(14): Show | a0003c0015t0001a0003c0020t0001a0003c0031t0004others(14): Show | a0003c0015t0001g0187a0003c0015t0001g0188a0003c0020t0001g0119others(18): Show | 21 | 306 | 0.0686 | -3 | c.*23 others(14): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1956 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94011933 | TCTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01169.hp1 others(18): Show |
a0001a0002a0007others(7): Show | a0001c0005a0002c0095a0007c0026others(8): Show | a0001c0005t0001a0002c0095t0001a0007c0026t0001others(8): Show | a0001c0005t0001g0157a0001c0005t0001g0175a0001c0005t0001g0178others(18): Show | 21 | 306 | 0.0686 | -3 | c.546 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94046280 | TAAA | T | intron_variant | MODIFIER | HG01192.hp2 HG02717.hp2 HG02896.hp1 others(3): Show |
a0001a0008a0039others(2): Show | a0001c0001a0001c0004a0008c0024others(3): Show | a0001c0001t0001a0001c0004t0001a0008c0024t0001others(3): Show | a0001c0001t0001g0105a0001c0004t0001g0036a0008c0024t0001g0285others(3): Show | 6 | 306 | 0.0196 | -3 | c.291 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94046304 | ATAC | A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01169.hp2 others(5): Show |
a0001a0003a0028others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0239a0001c0003t0001g0248a0001c0005t0001g0231others(5): Show | 8 | 306 | 0.0261 | -3 | c.291 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94122525 | TTGA | T | upstream_gene_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03225.hp2 others(3): Show |
a0001a0005a0047 | a0001c0001a0001c0004a0001c0107others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0107t0001others(3): Show | a0001c0001t0001g0106a0001c0004t0001g0236a0001c0107t0001g0009others(3): Show | 6 | 306 | 0.0196 | -3 | c.-14 others(14): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1378 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69261548 | ACAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00738.hp2 others(45): Show |
a0001a0004a0005 | a0001c0004a0001c0010a0001c0022others(2): Show | a0001c0004t0003a0001c0004t0005a0001c0004t0008others(11): Show | a0001c0004t0003g0166a0001c0004t0003g0336a0001c0004t0003g0337others(45): Show | 48 | 350 | 0.1371 | -3 | c.342 others(18): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 25/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69262016 | CATT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(42): Show |
a0001 | a0001c0002a0001c0006a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0020a0001c0006t0001others(4): Show | a0001c0002t0001g0002a0001c0002t0001g0046a0001c0002t0001g0048others(41): Show | 45 | 350 | 0.1286 | -3 | c.331 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69271639 | AGCT | A | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012 | 3 | 350 | 0.0086 | -3 | c.276 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69274839 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG02040.hp2 others(11): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004a0002c0001t0008 | a0002c0001t0002g0236a0002c0001t0002g0291a0002c0001t0004g0003others(10): Show | 14 | 350 | 0.0400 | -3 | c.259 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69282980 | CTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(6): Show |
a0001a0005 | a0001c0004a0005c0007 | a0001c0004t0017a0005c0007t0006 | a0001c0004t0017g0323a0005c0007t0006g0339a0005c0007t0006g0340others(6): Show | 9 | 350 | 0.0257 | -3 | c.239 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69288088 | GAGA | G | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02922.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0008a0001c0004t0026 | a0001c0004t0003g0166a0001c0004t0008g0167a0001c0004t0026g0165 | 3 | 350 | 0.0086 | -3 | c.190 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69299845 | TAAA | T | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012 | 3 | 350 | 0.0086 | -3 | c.126 others(22): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69301048 | TTAG | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0339a0005c0007t0006g0340a0005c0007t0006g0341others(5): Show | 8 | 350 | 0.0229 | -3 | c.126 others(18): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69100352 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0007others(10): Show | a0001c0001a0002c0002a0002c0019others(11): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(193): Show | 223 | 326 | 0.6841 | -3 | c.301 others(20): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69144892 | CCTT | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG03098.hp1 others(1): Show |
a0005a0006a0009 | a0005c0005a0006c0010a0009c0011 | a0005c0005t0001a0006c0010t0001a0009c0011t0001 | a0005c0005t0001g0160a0006c0010t0001g0259a0009c0011t0001g0042others(1): Show | 4 | 326 | 0.0123 | -3 | c.-31 others(14): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 2998 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68900538 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(101): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0015others(101): Show | 104 | 274 | 0.3796 | -3 | c.276 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 21/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68904291 | AAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG01168.hp2 HG02738.hp1 others(1): Show |
a0001a0006 | a0001c0002a0006c0052 | a0001c0002t0001a0001c0002t0006a0006c0052t0001 | a0001c0002t0001g0076a0001c0002t0001g0185a0001c0002t0006g0231others(1): Show | 4 | 274 | 0.0146 | -3 | c.239 others(20): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958854 | TATA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(135): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(26): Show | a0001c0001t0001g0028a0001c0001t0001g0129a0001c0001t0001g0157others(135): Show | 138 | 274 | 0.5037 | -3 | c.-38 others(14): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3463 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958889 | ATAT | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(4): Show |
a0001a0002a0020 | a0001c0001a0002c0006a0020c0049 | a0001c0001t0001a0002c0006t0001a0020c0049t0001 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0119others(3): Show | 7 | 274 | 0.0256 | -3 | c.-38 others(14): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3498 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68977037 | TGAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0.3782 | -3 | c.472 others(20): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68997594 | CTTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(27): Show |
a0001a0004a0007others(4): Show | a0001c0001a0004c0005a0007c0009others(4): Show | a0001c0001t0006a0004c0005t0003a0007c0009t0005others(4): Show | a0001c0001t0006g0051a0001c0001t0006g0052a0001c0001t0006g0053others(22): Show | 30 | 312 | 0.0962 | -3 | c.343 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69002563 | TGTG | T | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG02145.hp1 others(15): Show |
a0004a0012 | a0004c0005a0012c0014 | a0004c0005t0003a0012c0014t0003 | a0004c0005t0003g0001a0004c0005t0003g0268a0004c0005t0003g0269others(11): Show | 18 | 312 | 0.0577 | -3 | c.343 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69008342 | ATAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG02145.hp1 others(16): Show |
a0004a0011a0012 | a0004c0005a0011c0015a0012c0014 | a0004c0005t0003a0011c0015t0003a0012c0014t0003 | a0004c0005t0003g0001a0004c0005t0003g0268a0004c0005t0003g0269others(12): Show | 19 | 312 | 0.0609 | -3 | c.314 others(20): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 23/38 | chr17 | TogoVar |