| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF_chr10_50794409_50890627 | 50872946 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0043others(1): Show | a0001c0001t0008g0006a0001c0001t0008g0098a0001c0001t0009g0026others(4): Show | 10 | 338 | 0.0296 | -11 | c.-93 others(28): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
| A2ML1_chr12_8817621_8881787 | 8845863 | AATAAATA others(4): Show |
A | intron_variant | MODIFIER | HG01168.hp1 | a0010 | a0010c0020 | a0010c0020t0005 | a0010c0020t0005g0024 | 1 | 368 | 0.0027 | -11 | c.153 others(28): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| A2M_chr12_9062708_9120919 | 9094479 | AGCCAACT others(4): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(4): Show | 9 | 332 | 0.0271 | -11 | c.212 others(28): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | ||||||
| A2M_chr12_9062708_9120919 | 9120101 | TCCTTACT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 332 | 0.0030 | -11 | c.-42 others(22): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4183 | chr12 | TogoVar | ||||||
| A3GALT2_chr1_33301766_33326098 | 33308750 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0012a0001c0001t0000g0051a0001c0001t0000g0058others(6): Show | 11 | 418 | 0.0263 | -11 | c.336 others(28): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
| A3GALT2_chr1_33301766_33326098 | 33313175 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG03017.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0035 | 2 | 418 | 0.0048 | -11 | c.24- others(24): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| A4GALT_chr22_42687121_42725870 | 42714274 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 406 | 0.0025 | -11 | c.-18 others(30): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
| A4GALT_chr22_42687121_42725870 | 42722157 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(158): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(155): Show | 161 | 406 | 0.3966 | -11 | c.-15 others(22): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | ||||||
| A4GALT_chr22_42687121_42725870 | 42722223 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01516.hp1 NA18955.hp1 NA19062.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0001t0002g0195a0001c0002t0004g0088a0001c0002t0005g0148others(1): Show | 4 | 406 | 0.0099 | -11 | c.-16 others(22): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | ||||||
| AACS_chr12_125060435_125148316 | 125095020 | TGTGTCTG others(4): Show |
T | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 364 | 0.0028 | -11 | c.570 others(28): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
| AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02602.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0195a0002c0002t0001g0267 | 2 | 364 | 0.0055 | -11 | c.767 others(26): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| AADACL3_chr1_12711110_12733760 | 12713665 | TCACTGCC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG03927.hp2 |
a0001 | a0001c0012 | a0001c0012t0008 | a0001c0012t0008g0032a0001c0012t0008g0062 | 3 | 432 | 0.0069 | -11 | c.-25 others(22): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 2444 | chr1 | TogoVar | ||||||
| AAGAB_chr15_67195667_67259661 | 67196162 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG00735.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002a0002c0002t0003 | a0001c0001t0004g0255a0002c0002t0002g0075a0002c0002t0003g0007others(8): Show | 11 | 380 | 0.0290 | -11 | c.*66 others(22): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4504 | chr15 | TogoVar | ||||||
| AAK1_chr2_69452997_69648739 | 69456268 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0135 | 1 | 298 | 0.0034 | -11 | c.*19 others(24): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 1728 | chr2 | TogoVar | ||||||
| AAMDC_chr11_77816144_77877352 | 77831862 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02630.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022a0001c0002t0001g0023 | 2 | 382 | 0.0052 | -11 | c.-18 others(30): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36258857 | AAAAAAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0004a0001c0004t0005 | a0001c0002t0002g0036a0001c0002t0002g0037a0001c0002t0002g0183others(5): Show | 11 | 298 | 0.0369 | -11 | c.*31 others(22): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1925 | chr20 | TogoVar | ||||||
| AARS1_chr16_70247298_70294506 | 70248771 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 362 | 0.0028 | -11 | c.*39 others(22): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3526 | chr16 | TogoVar | ||||||
| AARS1_chr16_70247298_70294506 | 70262967 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0182 | 1 | 362 | 0.0028 | -11 | c.149 others(28): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | ||||||
| AARS1_chr16_70247298_70294506 | 70269322 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0338 | 1 | 362 | 0.0028 | -11 | c.962 others(26): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
| AARS1_chr16_70247298_70294506 | 70287254 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 362 | 0.0028 | -11 | c.-22 others(28): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
| AARSD1_chr17_42945526_42969454 | 42965117 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02886.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0046 | 3 | 324 | 0.0093 | -11 | c.-68 others(20): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 664 | chr17 | TogoVar | ||||||
| AARSD1_chr17_42945526_42969454 | 42965425 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01261.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0060others(4): Show | 10 | 324 | 0.0309 | -11 | c.-99 others(20): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 972 | chr17 | TogoVar | ||||||
| AATF_chr17_36943954_37061871 | 37009823 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0095 | 1 | 245 | 0.0041 | -11 | c.139 others(30): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AATK_chr17_81112295_81171221 | 81119125 | GGGGCCAG others(4): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show |
a0001a0009a0021others(2): Show | a0001c0004a0009c0019a0009c0025others(4): Show | a0001c0004t0001a0009c0019t0004a0009c0025t0004others(4): Show | a0001c0004t0001g0053a0009c0019t0004g0237a0009c0019t0004g0238others(7): Show | 10 | 368 | 0.0272 | -11 | c.408 others(28): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | ||||||
| AATK_chr17_81112295_81171221 | 81119140 | CCAGGTGA others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(74): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(71): Show | 77 | 368 | 0.2092 | -11 | c.408 others(28): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | ||||||
| AATK_chr17_81112295_81171221 | 81119245 | CGGGGCCG others(4): Show |
C | intron_variant | MODIFIER | NA18945.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0223 | 2 | 368 | 0.0054 | -11 | c.408 others(28): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | ||||||
| ABAT_chr16_8669617_8789570 | 8724735 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0022others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0081a0001c0001t0001g0146a0001c0001t0001g0173others(26): Show | 29 | 362 | 0.0801 | -11 | c.-41 others(30): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ABAT_chr16_8669617_8789570 | 8789445 | AAACAAAC others(4): Show |
A | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 362 | 0.0028 | -11 | c.*80 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4876 | chr16 | TogoVar | ||||||
| ABCA10_chr17_69143007_69233824 | 69158053 | AACAAACA others(4): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0105 | 1 | 348 | 0.0029 | -11 | c.336 others(30): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | ||||||
| ABCA10_chr17_69143007_69233824 | 69196126 | ACGGGGCG others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0025 | a0025c0029 | a0025c0029t0014 | a0025c0029t0014g0197 | 1 | 348 | 0.0029 | -11 | c.123 others(28): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
| ABCA10_chr17_69143007_69233824 | 69210170 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02809.hp1 others(5): Show |
a0004a0005 | a0004c0004a0004c0006a0005c0013others(1): Show | a0004c0004t0003a0004c0006t0003a0005c0013t0001others(1): Show | a0004c0004t0003g0241a0004c0004t0003g0242a0004c0004t0003g0280others(5): Show | 8 | 348 | 0.0230 | -11 | c.100 others(30): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
| ABCA10_chr17_69143007_69233824 | 69210828 | ATGCCACA others(4): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0183 | 1 | 348 | 0.0029 | -11 | c.100 others(30): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
| ABCA10_chr17_69143007_69233824 | 69211334 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01243.hp2 others(6): Show |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0005a0004c0004t0003g0074a0004c0004t0003g0207others(5): Show | 9 | 348 | 0.0259 | -11 | c.100 others(30): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
| ABCA12_chr2_214926542_215143626 | 214963605 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 HG03579.hp2 |
a0002a0005a0021 | a0002c0056a0005c0064a0021c0037 | a0002c0056t0004a0005c0064t0004a0021c0037t0004 | a0002c0056t0004g0020a0005c0064t0004g0070a0021c0037t0004g0023 | 3 | 198 | 0.0152 | -11 | c.588 others(30): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 39/52 | chr2 | TogoVar | ||||||
| ABCA12_chr2_214926542_215143626 | 215016582 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02922.hp2 others(2): Show |
a0001a0005 | a0001c0003a0005c0062a0005c0063others(1): Show | a0001c0003t0001a0005c0062t0004a0005c0063t0003others(1): Show | a0001c0003t0001g0034a0001c0003t0001g0036a0005c0062t0004g0078others(2): Show | 5 | 198 | 0.0253 | -11 | c.178 others(28): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | ||||||
| ABCA12_chr2_214926542_215143626 | 215112477 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02258.hp2 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0012a0001c0003t0001a0001c0004t0010others(14): Show | a0001c0001t0012g0192a0001c0003t0001g0044a0001c0004t0010g0198others(17): Show | 20 | 198 | 0.1010 | -11 | c.70- others(24): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
| ABCA12_chr2_214926542_215143626 | 215133149 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG02055.hp1 HG02451.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0007a0002c0008others(4): Show | a0001c0005t0005a0002c0007t0003a0002c0008t0004others(4): Show | a0001c0005t0005g0111a0002c0007t0003g0017a0002c0008t0004g0021others(5): Show | 8 | 198 | 0.0404 | -11 | c.69+ others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
| ABCA13_chr7_48166458_48652497 | 48172797 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG03654.hp1 HG04204.hp2 others(1): Show |
a0005a0008a0011others(1): Show | a0005c0005a0008c0013a0011c0046others(1): Show | a0005c0005t0003a0008c0013t0002a0011c0046t0002others(1): Show | a0005c0005t0003g0090a0008c0013t0002g0088a0011c0046t0002g0089others(1): Show | 4 | 178 | 0.0225 | -11 | c.69+ others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ABCA13_chr7_48166458_48652497 | 48290940 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | NA18986.hp2 | a0006 | a0006c0023 | a0006c0023t0003 | a0006c0023t0003g0171 | 1 | 178 | 0.0056 | -11 | c.895 others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ABCA13_chr7_48166458_48652497 | 48422055 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(23): Show |
a0001a0003a0004others(15): Show | a0001c0001a0003c0003a0003c0004others(17): Show | a0001c0001t0001a0003c0003t0004a0003c0004t0004others(19): Show | a0001c0001t0001g0177a0003c0003t0004g0028a0003c0003t0004g0034others(23): Show | 26 | 178 | 0.1461 | -11 | c.124 others(32): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ABCA13_chr7_48166458_48652497 | 48497684 | TCGCCCAC others(4): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG03669.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0103a0002c0065a0004c0079others(1): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(1): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(1): Show | 4 | 178 | 0.0225 | -11 | c.132 others(32): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 48/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ABCA1_chr9_104776006_104933155 | 104809248 | GACGTGCT others(4): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0289 | 1 | 318 | 0.0031 | -11 | c.427 others(28): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | ||||||
| ABCA1_chr9_104776006_104933155 | 104810158 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03579.hp2 |
a0004a0008 | a0004c0112a0008c0047 | a0004c0112t0005a0008c0047t0002 | a0004c0112t0005g0098a0008c0047t0002g0244 | 2 | 318 | 0.0063 | -11 | c.417 others(28): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | ||||||
| ABCA1_chr9_104776006_104933155 | 104862674 | CGGGCCGG others(4): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0031 | a0002c0031t0001 | a0002c0031t0001g0152 | 1 | 318 | 0.0031 | -11 | c.422 others(26): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
| ABCA1_chr9_104776006_104933155 | 104862702 | CCCCCACC others(4): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0035 | a0001c0035t0009 | a0001c0035t0009g0071 | 1 | 318 | 0.0031 | -11 | c.422 others(26): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
| ABCA1_chr9_104776006_104933155 | 104882028 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | NA19083.hp2 | a0010 | a0010c0030 | a0010c0030t0022 | a0010c0030t0022g0191 | 1 | 318 | 0.0031 | -11 | c.421 others(28): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
| ABCA3_chr16_2270881_2345728 | 2273503 | TGCCTGTA others(4): Show |
T | downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 252 | 0.0040 | -11 | c.*31 others(22): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2377 | chr16 | TogoVar | ||||||
| ABCA3_chr16_2270881_2345728 | 2316490 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 252 | 0.0040 | -11 | c.111 others(28): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
| ABCA4_chr1_93987834_94126148 | 94014181 | GGAAAGAA others(4): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp2 HG03453.hp1 others(1): Show |
a0001a0023a0036others(1): Show | a0001c0055a0023c0036a0036c0071others(1): Show | a0001c0055t0005a0023c0036t0003a0036c0071t0003others(1): Show | a0001c0055t0005g0302a0023c0036t0003g0068a0036c0071t0003g0048others(1): Show | 4 | 306 | 0.0131 | -11 | c.546 others(28): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | ||||||
| ABCA5_chr17_69239311_69332133 | 69257227 | CAGGTGTG others(4): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0179 | 1 | 350 | 0.0029 | -11 | c.373 others(28): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | chr17 | TogoVar |