view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 214937863 | AAACAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02258.hp1 others(5): Show |
a0001a0002a0003 | a0001c0022a0001c0032a0002c0057others(1): Show | a0001c0022t0006a0001c0022t0019a0001c0032t0006others(3): Show | a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0032t0006g0042 others(5): Show |
8 | 196 | 0.0408 | -5 | c.743 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 50/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215006867 | CTTTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG01255.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0011a0001c0012others(12): Show | a0001c0003t0001a0001c0011t0001a0001c0011t0005others(20): Show | a0001c0003t0001g0043 a0001c0011t0001g0085 a0001c0011t0001g0087 others(31): Show |
34 | 138 | 0.2464 | -5 | c.259 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 19/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215071196 | CAAATA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(41): Show |
a0001a0002a0018others(1): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0001others(17): Show | a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0066 others(41): Show |
44 | 81 | 0.5432 | -5 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215103263 | CTTTCT | C | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0003 | a0001c0012a0001c0068a0002c0007others(3): Show | a0001c0012t0014a0001c0068t0003a0002c0007t0002others(4): Show | a0001c0012t0014g0015 a0001c0068t0003g0016 a0002c0007t0002g0105 others(5): Show |
8 | 163 | 0.0491 | -5 | c.163 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215112333 | ATTTTT | A | intron_variant | MODIFIER | HG01975.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0005a0001c0010a0001c0022others(3): Show | a0001c0005t0003a0001c0005t0005a0001c0010t0004others(4): Show | a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0010t0004g0113 others(6): Show |
9 | 124 | 0.0726 | -5 | c.70- others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215132499 | CTTTTT | C | intron_variant | MODIFIER | HG01975.hp2 HG02280.hp1 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0005a0001c0051a0002c0027others(1): Show | a0001c0005t0003a0001c0005t0005a0001c0051t0004others(2): Show | a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0051t0004g0076 others(3): Show |
6 | 181 | 0.0331 | -5 | c.69+ others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00738.hp1 others(27): Show |
a0001a0008a0009others(18): Show | a0001c0001a0001c0010a0001c0103others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(22): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0082 others(27): Show |
30 | 35 | 0.8571 | -5 | c.69+ others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48207296 | TTTGGA | T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164 a0002c0002t0002g0156 a0002c0002t0002g0167 others(21): Show |
24 | 176 | 0.1364 | -5 | c.287 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48287074 | AGGGAG | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02809.hp1 others(6): Show |
a0013a0020a0057others(3): Show | a0013c0006a0020c0020a0057c0054others(3): Show | a0013c0006t0001a0020c0020t0001a0020c0020t0005others(4): Show | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(6): Show |
9 | 176 | 0.0511 | -5 | c.883 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330029 | TTATCC | T | intron_variant | MODIFIER | HG01243.hp1 NA20805.hp1 |
a0018a0035 | a0018c0026a0035c0077 | a0018c0026t0001a0035c0077t0003 | a0018c0026t0001g0081 a0035c0077t0003g0046 |
2 | 176 | 0.0114 | -5 | c.100 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48358166 | AAGGAC | A | intron_variant | MODIFIER | HG02970.hp2 NA18998.hp1 NA19030.hp2 |
a0002a0064a0082 | a0002c0002a0064c0105a0082c0062 | a0002c0002t0004a0064c0105t0005a0082c0062t0003 | a0002c0002t0004g0106 a0064c0105t0005g0037 a0082c0062t0003g0143 |
3 | 169 | 0.0178 | -5 | c.106 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358222 | AAGGGG | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(17): Show |
a0001a0002a0008others(14): Show | a0001c0001a0002c0002a0008c0032others(14): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0004others(15): Show | a0001c0001t0002g0058 a0002c0002t0002g0156 a0002c0002t0002g0167 others(17): Show |
20 | 117 | 0.1709 | -5 | c.106 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358264 | GGGGAC | G | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG03098.hp1 |
a0006a0058a0065 | a0006c0024a0058c0049a0065c0056 | a0006c0024t0001a0058c0049t0001a0065c0056t0002 | a0006c0024t0001g0019 a0058c0049t0001g0086 a0065c0056t0002g0018 |
3 | 176 | 0.0170 | -5 | c.106 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48411085 | CTCCTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01993.hp1 HG03041.hp1 others(7): Show |
a0001a0009a0015others(6): Show | a0001c0010a0009c0044a0015c0019others(6): Show | a0001c0010t0001a0009c0044t0001a0015c0019t0002others(6): Show | a0001c0010t0001g0067 a0009c0044t0001g0100 a0015c0019t0002g0136 others(7): Show |
10 | 176 | 0.0568 | -5 | c.122 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411102 | CCTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001a0002a0003others(25): Show | a0001c0010a0002c0022a0003c0003others(26): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(29): Show | a0001c0010t0002g0075 a0002c0022t0002g0124 a0003c0003t0004g0028 others(37): Show |
40 | 176 | 0.2273 | -5 | c.122 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411120 | CTCCTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01975.hp2 HG01993.hp1 others(12): Show |
a0001a0008a0009others(11): Show | a0001c0010a0008c0013a0009c0044others(11): Show | a0001c0010t0001a0008c0013t0005a0009c0044t0001others(11): Show | a0001c0010t0001g0067 a0008c0013t0005g0045 a0009c0044t0001g0100 others(12): Show |
15 | 175 | 0.0857 | -5 | c.122 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411291 | CTTCTT | C | intron_variant | MODIFIER | HG03834.hp2 HG06807.hp1 NA18942.hp1 others(3): Show |
a0001a0003a0074others(1): Show | a0001c0001a0003c0004a0074c0036others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0004t0002others(3): Show | a0001c0001t0001g0040 a0001c0001t0002g0058 a0003c0004t0002g0035 others(3): Show |
6 | 86 | 0.0698 | -5 | c.122 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48425719 | CTATAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(27): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0022others(20): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(20): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(27): Show |
30 | 176 | 0.1705 | -5 | c.124 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48463776 | CGGAAT | C | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG02523.hp2 others(11): Show |
a0001a0003a0008others(5): Show | a0001c0001a0001c0010a0003c0004others(7): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(11): Show |
14 | 167 | 0.0838 | -5 | c.128 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48514926 | TGAGTA | T | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02717.hp1 others(9): Show |
a0005a0007a0013others(6): Show | a0005c0063a0007c0102a0013c0006others(6): Show | a0005c0063t0001a0007c0102t0001a0013c0006t0001others(7): Show | a0005c0063t0001g0010 a0007c0102t0001g0020 a0013c0006t0001g0002 others(9): Show |
12 | 176 | 0.0682 | -5 | c.136 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48642165 | TAAGAC | T | intron_variant | MODIFIER | HG02280.hp1 HG03486.hp1 |
a0046a0069 | a0046c0067a0069c0086 | a0046c0067t0009a0069c0086t0009 | a0046c0067t0009g0144 a0069c0086t0009g0160 |
2 | 176 | 0.0114 | -5 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104810164 | ATATAC | A | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01169.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0025a0004c0008others(2): Show | a0001c0001t0001a0001c0001t0039a0002c0025t0008others(6): Show | a0001c0001t0001g0089 a0001c0001t0039g0158 a0002c0025t0008g0199 others(6): Show |
9 | 316 | 0.0285 | -5 | c.417 others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104849382 | GTTTAA | G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp1 others(7): Show |
a0002a0011a0020others(2): Show | a0002c0017a0002c0032a0002c0058others(5): Show | a0002c0017t0026a0002c0032t0001a0002c0058t0007others(5): Show | a0002c0017t0026g0190 a0002c0017t0026g0209 a0002c0032t0001g0026 others(7): Show |
10 | 315 | 0.0317 | -5 | c.721 others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104850504 | TAAAAG | T | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG00741.hp1 others(28): Show |
a0002a0003a0005others(7): Show | a0002c0033a0002c0037a0002c0085others(13): Show | a0002c0033t0002a0002c0033t0032a0002c0037t0011others(22): Show | a0002c0033t0002g0302 a0002c0033t0032g0025 a0002c0037t0011g0126 others(28): Show |
31 | 316 | 0.0981 | -5 | c.721 others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104869915 | GGTTAA | G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01099.hp1 others(65): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0035others(44): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0039others(51): Show | a0001c0001t0004g0021 a0001c0001t0006g0051 a0001c0001t0039g0158 others(64): Show |
68 | 316 | 0.2152 | -5 | c.422 others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | TAAAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01071.hp2 others(3): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0097a0002c0058others(2): Show | a0001c0001t0001a0001c0097t0001a0002c0058t0007others(2): Show | a0001c0001t0001g0273 a0001c0097t0001g0107 a0002c0058t0007g0146 others(3): Show |
6 | 26 | 0.2308 | -5 | c.421 others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104913776 | TTTTTA | T | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG01168.hp2 others(22): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0002c0011others(14): Show | a0001c0001t0001a0001c0001t0039a0001c0005t0002others(17): Show | a0001c0001t0001g0017 a0001c0001t0039g0158 a0001c0005t0002g0018 others(22): Show |
25 | 315 | 0.0794 | -5 | c.-92 others(24): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104913956 | CGCCCG | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(85): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0005a0001c0035others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0083 others(85): Show |
88 | 316 | 0.2785 | -5 | c.-92 others(24): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137027914 | GAGGGC | G | intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 NA18973.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0036 | a0001c0001t0001a0001c0002t0002a0001c0036t0002 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0002t0002g0045 others(1): Show |
4 | 318 | 0.0126 | -5 | c.66+ others(18): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 1/48 | chr9 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998713 | ATTTAT | A | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01192.hp2 others(6): Show |
a0001a0003a0025others(1): Show | a0001c0001a0001c0003a0003c0067others(2): Show | a0001c0001t0001a0001c0003t0001a0003c0067t0001others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0060 others(6): Show |
9 | 221 | 0.0407 | -5 | c.648 others(22): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94007473 | TGTTGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00738.hp2 others(55): Show |
a0001a0002a0003others(22): Show | a0001c0004a0001c0005a0001c0085others(30): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(31): Show | a0001c0004t0001g0044 a0001c0004t0001g0048 a0001c0004t0001g0156 others(55): Show |
58 | 304 | 0.1908 | -5 | c.600 others(22): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 43/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94067219 | TAAAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0004others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0047 others(109): Show |
114 | 304 | 0.3750 | -5 | c.155 others(24): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94117002 | CTTTCT | C | intron_variant | MODIFIER | HG01175.hp1 HG04204.hp1 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0143 others(1): Show |
4 | 303 | 0.0132 | -5 | c.67- others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124144 | TTTTTG | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00733.hp1 others(36): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0193 others(36): Show |
39 | 303 | 0.1287 | -5 | c.-31 others(16): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2997 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69262777 | CTGTTT | C | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(23): Show |
a0002a0011 | a0002c0001a0002c0016a0011c0020 | a0002c0001t0004a0002c0001t0008a0002c0001t0022others(2): Show | a0002c0001t0004g0004 a0002c0001t0004g0167 a0002c0001t0004g0168 others(22): Show |
26 | 348 | 0.0747 | -5 | c.331 others(24): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303786 | ATATAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01255.hp2 others(14): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0003a0001c0004t0008a0002c0001t0004 | a0001c0004t0003g0165 a0001c0004t0008g0166 a0002c0001t0004g0004 others(13): Show |
17 | 344 | 0.0494 | -5 | c.930 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69307215 | CAAATA | C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(39): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0015a0003c0003t0021 | a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 others(37): Show |
42 | 348 | 0.1207 | -5 | c.559 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 5/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69132931 | TATGTA | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01243.hp1 others(6): Show |
a0005a0017 | a0005c0005a0017c0030 | a0005c0005t0002a0017c0030t0002 | a0005c0005t0002g0123 a0005c0005t0002g0124 a0005c0005t0002g0125 others(6): Show |
9 | 324 | 0.0278 | -5 | c.791 others(20): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146689 | GATATA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0002a0005c0005t0002 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(8): Show |
11 | 324 | 0.0340 | -5 | c.-49 others(16): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4795 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1068957 | CTTTAT | C | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02071.hp1 HG02071.hp2 others(14): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0002c0009others(11): Show | a0001c0001t0003a0002c0003t0001a0002c0009t0001others(11): Show | a0001c0001t0003g0017 a0002c0003t0001g0007 a0002c0003t0001g0009 others(14): Show |
17 | 28 | 0.6071 | -5 | c.*35 others(16): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 3386 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1070505 | TCTTTC | T | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02145.hp2 HG02723.hp2 others(4): Show |
a0004a0006a0010others(3): Show | a0004c0005a0006c0019a0010c0008others(3): Show | a0004c0005t0002a0006c0019t0002a0010c0008t0002others(3): Show | a0004c0005t0002g0002 a0004c0005t0002g0003 a0006c0019t0002g0029 others(4): Show |
7 | 28 | 0.2500 | -5 | c.*50 others(16): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 4934 | chr19 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68904289 | AGAAAT | A | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01106.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0054 a0001c0001t0001g0080 a0001c0001t0001g0084 others(26): Show |
29 | 176 | 0.1648 | -5 | c.239 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68916241 | AATTAT | A | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0046 | a0001c0001t0001a0001c0003t0001a0002c0046t0001 | a0001c0001t0001g0043 a0001c0003t0001g0102 a0002c0046t0001g0052 |
3 | 272 | 0.0110 | -5 | c.213 others(24): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958430 | AATTAT | A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02818.hp1 others(7): Show |
a0001a0023 | a0001c0005a0001c0011a0023c0020 | a0001c0005t0001a0001c0011t0001a0023c0020t0001 | a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 others(7): Show |
10 | 272 | 0.0368 | -5 | c.-33 others(16): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3039 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958768 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(39): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(39): Show |
42 | 245 | 0.1714 | -5 | c.-37 others(16): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3377 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68987761 | TGTTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(51): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(3): Show | a0001c0001t0001g0248 a0002c0002t0002g0003 a0002c0002t0002g0004 others(46): Show |
54 | 242 | 0.2231 | -5 | c.404 others(24): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 31/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68987762 | GTTTGT | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0006a0006c0009t0005 | a0001c0001t0006g0008 a0001c0001t0006g0054 a0006c0009t0005g0015 others(3): Show |
8 | 292 | 0.0274 | -5 | c.404 others(24): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 31/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69016173 | TATAAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG02145.hp1 others(16): Show |
a0004a0011a0014 | a0004c0005a0011c0014a0014c0015 | a0004c0005t0003a0011c0014t0003a0014c0015t0003 | a0004c0005t0003g0001 a0004c0005t0003g0263 a0004c0005t0003g0264 others(12): Show |
19 | 310 | 0.0613 | -5 | c.303 others(20): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69057840 | TTCTTG | T | intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01109.hp2 others(31): Show |
a0004a0005a0009 | a0004c0005a0005c0006a0009c0012 | a0004c0005t0003a0005c0006t0001a0009c0012t0001 | a0004c0005t0003g0001 a0004c0005t0003g0263 a0004c0005t0003g0264 others(25): Show |
34 | 310 | 0.1097 | -5 | c.-14 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69063582 | CTTTGT | C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02572.hp1 HG03195.hp1 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(7): Show |
10 | 310 | 0.0323 | -5 | c.-27 others(16): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 2656 | chr17 | TogoVar |