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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA2_chr9_137002234_137033237 | 137030835 | G | A | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-26 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2598 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030926 | G | A | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 320 | 0.0031 | 0 | c.-27 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2689 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030931 | C | T | upstream_gene_variant | MODIFIER | HG01256.hp1 NA20129.hp2 |
a0001a0007 | a0001c0002a0007c0043 | a0001c0002t0002a0007c0043t0001 | a0001c0002t0002g0004a0007c0043t0001g0141 | 2 | 320 | 0.0063 | 0 | c.-27 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2694 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030932 | G | A | upstream_gene_variant | MODIFIER | HG01978.hp1 HG03017.hp1 |
a0003a0017 | a0003c0021a0017c0057 | a0003c0021t0001a0017c0057t0001 | a0003c0021t0001g0140a0017c0057t0001g0196 | 2 | 320 | 0.0063 | 0 | c.-27 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2695 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030941 | C | T | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2704 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030943 | C | T | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0162 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2706 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030944 | G | A | upstream_gene_variant | MODIFIER | HG01952.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 320 | 0.0063 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2707 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030966 | G | A | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2729 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030967 | G | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2730 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030968 | G | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2731 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030971 | C | G | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2734 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030996 | G | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2759 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137030999 | A | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2762 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031007 | G | A | upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0155 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2770 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031007 | G | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2770 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031012 | G | A | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0012 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2775 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031021 | T | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2784 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031022 | C | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2785 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031028 | A | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2791 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031035 | T | G | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2798 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031039 | G | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-28 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2802 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031042 | G | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2805 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031044 | T | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2807 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031048 | A | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2811 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031050 | T | G | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2813 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031064 | G | A | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2827 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031065 | T | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2828 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031066 | A | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2829 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031085 | G | A | upstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0007 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2848 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031090 | G | A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 320 | 0.0031 | 0 | c.-29 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2853 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031335 | C | G | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0050 | 1 | 320 | 0.0031 | 0 | c.-31 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3098 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031475 | G | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01099.hp2 others(31): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0001c0009others(9): Show | a0001c0003t0001a0001c0006t0003a0001c0009t0001others(11): Show | a0001c0003t0001g0054a0001c0006t0003g0171a0001c0006t0003g0172others(25): Show | 34 | 320 | 0.1063 | 0 | c.-33 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3238 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031531 | G | A | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01496.hp1 HG02129.hp2 others(5): Show |
a0001a0003 | a0001c0003a0001c0009a0001c0053others(1): Show | a0001c0003t0001a0001c0009t0001a0001c0053t0001others(1): Show | a0001c0003t0001g0054a0001c0009t0001g0018a0001c0009t0001g0052others(4): Show | 8 | 320 | 0.0250 | 0 | c.-33 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3294 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031601 | C | T | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135 | 1 | 320 | 0.0031 | 0 | c.-34 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3364 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031621 | T | G | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0056 | a0001c0056t0001 | a0001c0056t0001g0186 | 1 | 320 | 0.0031 | 0 | c.-34 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3384 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031910 | C | T | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 320 | 0.0031 | 0 | c.-37 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3673 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031915 | G | A | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 320 | 0.0031 | 0 | c.-37 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3678 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137031950 | T | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(206): Show |
a0001a0003a0005others(10): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(130): Show | 209 | 320 | 0.6531 | 0 | c.-38 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3713 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032085 | G | A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0015a0001c0025 | a0001c0015t0003a0001c0025t0002 | a0001c0015t0003g0062a0001c0015t0003g0063a0001c0015t0003g0064others(1): Show | 5 | 320 | 0.0156 | 0 | c.-39 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3848 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032155 | C | T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02622.hp2 others(3): Show |
a0001a0008a0013 | a0001c0001a0001c0040a0008c0042others(1): Show | a0001c0001t0001a0001c0040t0001a0008c0042t0001others(1): Show | a0001c0001t0001g0017a0001c0040t0001g0164a0008c0042t0001g0165others(1): Show | 6 | 320 | 0.0188 | 0 | c.-40 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 3918 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032337 | A | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-41 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4100 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032338 | G | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-41 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4101 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032347 | G | A | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-42 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4110 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032349 | A | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-42 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4112 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032350 | G | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-42 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4113 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032351 | A | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-42 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4114 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032352 | G | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-42 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4115 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032353 | G | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-42 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4116 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032361 | G | T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-42 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4124 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137032362 | G | C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 320 | 0.0031 | 0 | c.-42 others(5): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4125 | chr9 | TogoVar |