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 | 104869240 | GA | G | intron_variant | MODIFIER | NA18942.hp2 NA18970.hp1 NA18998.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0011a0003c0002 | a0001c0001t0001a0002c0011t0020a0003c0002t0002others(1): Show | a0001c0001t0001g0102a0002c0011t0020g0171a0003c0002t0002g0045others(1): Show | 4 | 318 | 0.0126 | -1 | c.422 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104872043 | AT | A | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02922.hp2 others(5): Show |
a0002a0004a0008others(1): Show | a0002c0033a0004c0066a0004c0114others(3): Show | a0002c0033t0002a0002c0033t0032a0004c0066t0008others(4): Show | a0002c0033t0002g0301a0002c0033t0032g0024a0004c0066t0008g0007others(5): Show | 8 | 318 | 0.0252 | -1 | c.422 others(10): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104876688 | AG | A | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01099.hp1 others(37): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0011others(29): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0043others(32): Show | a0001c0001t0004g0021a0001c0001t0006g0054a0001c0001t0043g0002others(37): Show | 40 | 318 | 0.1258 | -1 | c.421 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104881474 | CA | C | intron_variant | MODIFIER | HG01243.hp2 HG01952.hp1 HG02486.hp2 others(5): Show |
a0002a0004a0008others(2): Show | a0002c0024a0002c0031a0004c0043others(3): Show | a0002c0024t0008a0002c0031t0001a0004c0043t0003others(3): Show | a0002c0024t0008g0003a0002c0024t0008g0008a0002c0031t0001g0278others(5): Show | 8 | 318 | 0.0252 | -1 | c.421 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104882028 | TA | T | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01884.hp2 others(32): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0005a0002c0011others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(30): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0006g0054others(32): Show | 35 | 318 | 0.1101 | -1 | c.421 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104886195 | TC | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(86): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0035others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(74): Show | a0001c0001t0001g0088a0001c0001t0003g0089a0001c0001t0004g0194others(86): Show | 89 | 318 | 0.2799 | -1 | c.161 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104887722 | CT | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0001c0035others(40): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(66): Show | a0001c0001t0004g0194a0001c0001t0006g0047a0001c0001t0006g0058others(76): Show | 79 | 318 | 0.2484 | -1 | c.160 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104891966 | TA | T | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01192.hp1 others(42): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0002c0015others(30): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021others(42): Show | 45 | 318 | 0.1415 | -1 | c.67- others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104892727 | GT | G | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02895.hp1 others(3): Show |
a0002a0008 | a0002c0017a0002c0024a0002c0031others(2): Show | a0002c0017t0026a0002c0024t0008a0002c0031t0001others(2): Show | a0002c0017t0026g0276a0002c0024t0008g0003a0002c0024t0008g0008others(3): Show | 6 | 318 | 0.0189 | -1 | c.67- others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104893421 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00642.hp1 others(35): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0002c0011others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0088a0001c0001t0001g0176a0001c0001t0003g0089others(35): Show | 38 | 318 | 0.1195 | -1 | c.67- others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104894128 | GC | G | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01106.hp1 others(44): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0002c0011others(33): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021others(44): Show | 47 | 318 | 0.1478 | -1 | c.67- others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CT | C | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 NA18967.hp2 others(4): Show |
a0001a0002a0004others(4): Show | a0001c0005a0002c0032a0004c0008others(4): Show | a0001c0005t0002a0002c0032t0001a0004c0008t0016others(4): Show | a0001c0005t0002g0192a0002c0032t0001g0317a0004c0008t0016g0266others(4): Show | 7 | 318 | 0.0220 | -1 | c.66+ others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104897128 | GA | G | intron_variant | MODIFIER | HG01109.hp1 HG02965.hp2 HG03098.hp2 others(1): Show |
a0002a0018 | a0002c0032a0002c0037a0002c0046others(1): Show | a0002c0032t0001a0002c0037t0001a0002c0046t0002others(1): Show | a0002c0032t0001g0025a0002c0037t0001g0275a0002c0046t0002g0154others(1): Show | 4 | 318 | 0.0126 | -1 | c.66+ others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104904564 | CA | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(61): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0035others(29): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(48): Show | a0001c0001t0001g0026a0001c0001t0006g0047a0001c0001t0006g0054others(61): Show | 64 | 318 | 0.2013 | -1 | c.-92 others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104905965 | AG | A | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 NA18906.hp2 |
a0002a0012 | a0002c0017a0002c0085a0012c0041 | a0002c0017t0026a0002c0085t0008a0012c0041t0001 | a0002c0017t0026g0276a0002c0085t0008g0142a0012c0041t0001g0274 | 3 | 318 | 0.0094 | -1 | c.-92 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104906749 | TC | T | intron_variant | MODIFIER | HG01255.hp2 HG01952.hp2 HG02257.hp2 others(6): Show |
a0002a0005a0008others(2): Show | a0002c0017a0002c0025a0002c0032others(5): Show | a0002c0017t0026a0002c0025t0008a0002c0025t0015others(6): Show | a0002c0017t0026g0276a0002c0025t0008g0285a0002c0025t0015g0283others(6): Show | 9 | 318 | 0.0283 | -1 | c.-92 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104906750 | CA | C | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01109.hp1 others(25): Show |
a0001a0002a0005others(11): Show | a0001c0001a0001c0005a0002c0015others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(22): Show | a0001c0001t0001g0176a0001c0001t0001g0203a0001c0001t0004g0193others(25): Show | 28 | 318 | 0.0881 | -1 | c.-92 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104912833 | AT | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02572.hp2 others(3): Show |
a0002a0005a0008others(1): Show | a0002c0057a0005c0022a0008c0006others(1): Show | a0002c0057t0001a0005c0022t0002a0005c0022t0021others(2): Show | a0002c0057t0001g0148a0005c0022t0002g0284a0005c0022t0021g0141others(3): Show | 6 | 318 | 0.0189 | -1 | c.-92 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104914500 | TA | T | intron_variant | MODIFIER | HG01496.hp2 HG02451.hp2 HG02897.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0024a0002c0059others(8): Show | a0001c0001t0006a0002c0024t0008a0002c0059t0001others(8): Show | a0001c0001t0006g0047a0002c0024t0008g0003a0002c0059t0001g0235others(8): Show | 11 | 318 | 0.0346 | -1 | c.-92 others(10): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104926449 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(68): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0001c0035others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(51): Show | a0001c0001t0001g0026a0001c0001t0001g0077a0001c0001t0001g0082others(68): Show | 71 | 318 | 0.2233 | -1 | c.-93 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104926483 | AC | A | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01433.hp1 others(8): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0005a0004c0096others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(5): Show | a0001c0001t0001g0016a0001c0001t0004g0021a0001c0005t0002g0017others(8): Show | 11 | 318 | 0.0346 | -1 | c.-93 others(9): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104927220 | AG | A | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01081.hp2 others(33): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0001c0035others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0016a0001c0001t0001g0088a0001c0001t0003g0086others(33): Show | 36 | 318 | 0.1132 | -1 | c.-93 others(8): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104932825 | CA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01243.hp1 others(17): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0035a0002c0025others(13): Show | a0001c0001t0002a0001c0001t0043a0001c0035t0004others(16): Show | a0001c0001t0002g0137a0001c0001t0043g0002a0001c0035t0004g0011others(17): Show | 20 | 318 | 0.0629 | -1 | c.-49 others(6): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4671 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137003478 | TC | T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0014 | a0001c0001t0002a0001c0007t0004a0001c0014t0004 | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0007t0004g0050others(1): Show | 4 | 320 | 0.0125 | -1 | c.*44 others(6): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3755 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137003479 | CT | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02135.hp1 others(14): Show |
a0001 | a0001c0002a0001c0014a0001c0015others(9): Show | a0001c0002t0002a0001c0014t0003a0001c0015t0003others(10): Show | a0001c0002t0002g0001a0001c0014t0003g0155a0001c0014t0003g0162others(13): Show | 17 | 320 | 0.0531 | -1 | c.*44 others(6): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3754 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137019424 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG00741.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0009others(13): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0001others(15): Show | a0001c0001t0001g0035a0001c0001t0001g0061a0001c0001t0001g0146others(25): Show | 37 | 320 | 0.1156 | -1 | c.142 others(9): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 10/48 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030054 | AC | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0003a0005others(10): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(126): Show | 204 | 320 | 0.6375 | -1 | c.-19 others(6): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 1818 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2279742 | AT | A | intron_variant | MODIFIER | HG01515.hp1 HG01928.hp2 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0055a0001c0001t0002g0198a0001c0001t0003g0011others(12): Show | 15 | 252 | 0.0595 | -1 | c.436 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2293539 | GT | G | intron_variant | MODIFIER | HG00639.hp1 HG02895.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0011others(1): Show | a0001c0001t0001g0071a0001c0001t0002g0192a0001c0001t0002g0207others(2): Show | 5 | 252 | 0.0198 | -1 | c.241 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2301230 | CA | C | intron_variant | MODIFIER | HG01255.hp1 HG02897.hp2 HG03017.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0198a0001c0001t0003g0011a0001c0001t0004g0006others(3): Show | 6 | 252 | 0.0238 | -1 | c.146 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2301552 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0146a0001c0001t0002g0215a0001c0001t0008g0178others(3): Show | 6 | 252 | 0.0238 | -1 | c.146 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2301713 | GA | G | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG01516.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0071a0001c0002t0001g0187a0001c0003t0001g0148others(17): Show | 20 | 252 | 0.0794 | -1 | c.146 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2303264 | CT | C | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01169.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0072a0001c0001t0001g0088a0001c0001t0001g0146others(7): Show | 10 | 252 | 0.0397 | -1 | c.146 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2304500 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp2 others(51): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0096others(51): Show | 54 | 252 | 0.2143 | -1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2304675 | AT | A | intron_variant | MODIFIER | HG01943.hp1 HG02155.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0070a0001c0001t0001g0074a0001c0001t0001g0090others(2): Show | 5 | 252 | 0.0198 | -1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2304725 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0076a0001c0001t0001g0088a0001c0001t0001g0096others(46): Show | 50 | 252 | 0.1984 | -1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2307016 | CA | C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0055a0001c0001t0001g0104a0001c0001t0001g0144others(7): Show | 10 | 252 | 0.0397 | -1 | c.128 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2308196 | TG | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(31): Show |
a0001a0006a0012 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0146a0001c0001t0001g0189a0001c0001t0002g0215others(31): Show | 34 | 252 | 0.1349 | -1 | c.128 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2310249 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(45): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0112a0001c0002t0001g0001a0001c0002t0001g0045others(44): Show | 48 | 252 | 0.1905 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2312531 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(86): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0072a0001c0001t0001g0112a0001c0001t0001g0146others(85): Show | 89 | 252 | 0.3532 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2313552 | CA | C | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp1 HG01884.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0072a0001c0001t0001g0158a0001c0001t0001g0176others(9): Show | 12 | 252 | 0.0476 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2314257 | GC | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(86): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0112a0001c0001t0001g0146a0001c0001t0001g0189others(85): Show | 89 | 252 | 0.3532 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2314872 | CT | C | intron_variant | MODIFIER | HG02148.hp2 HG02280.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0235a0001c0001t0003g0020a0001c0001t0003g0027others(2): Show | 5 | 252 | 0.0198 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2315052 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(53): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0001g0112a0001c0002t0001g0001a0001c0002t0001g0045others(52): Show | 56 | 252 | 0.2222 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2315839 | CT | C | intron_variant | MODIFIER | HG00323.hp2 HG02698.hp1 HG02895.hp1 others(2): Show |
a0001a0009 | a0001c0001a0001c0007a0009c0021 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0084a0001c0001t0001g0090a0001c0001t0002g0217others(2): Show | 5 | 252 | 0.0198 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316140 | GA | G | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0090a0001c0001t0001g0238a0001c0001t0003g0015others(5): Show | 8 | 252 | 0.0318 | -1 | c.111 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316308 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(50): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0130a0001c0001t0002g0220a0001c0002t0001g0001others(49): Show | 53 | 252 | 0.2103 | -1 | c.111 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CA | C | intron_variant | MODIFIER | HG00735.hp1 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0189a0001c0001t0001g0236a0001c0001t0002g0192others(5): Show | 8 | 252 | 0.0318 | -1 | c.111 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2318956 | CT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01258.hp1 others(13): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0153a0001c0001t0001g0158a0001c0001t0002g0192others(13): Show | 16 | 252 | 0.0635 | -1 | c.873 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2328996 | CT | C | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01071.hp1 others(34): Show |
a0001a0006a0009 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0095a0001c0001t0001g0158a0001c0001t0002g0191others(34): Show | 37 | 252 | 0.1468 | -1 | c.-33 others(9): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | TogoVar |