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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP3B1_chr5_77997326_78299698 | 78169733 | G | GTTA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(75): Show |
78 | 192 | 0.4063 | 3 | c.116 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78243560 | A | ATAG | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(29): Show |
32 | 224 | 0.1429 | 3 | c.205 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78255156 | T | TAGA | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0002a0003c0008t0002 | a0001c0004t0002g0006 a0003c0008t0002g0035 a0003c0008t0002g0036 others(2): Show |
5 | 224 | 0.0223 | 3 | c.204 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78261756 | G | GGTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(132): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(132): Show |
135 | 224 | 0.6027 | 3 | c.204 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78278598 | C | CAAA | intron_variant | MODIFIER | HG01168.hp1 HG02280.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0001a0001c0005t0002 | a0001c0004t0002g0186 a0001c0005t0001g0195 a0001c0005t0002g0187 others(5): Show |
8 | 172 | 0.0465 | 3 | c.129 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78280072 | C | CAAA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(25): Show |
28 | 207 | 0.1353 | 3 | c.129 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82670112 | T | TGGG | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0037 others(40): Show |
43 | 263 | 0.1635 | 3 | c.166 others(22): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 14/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82671741 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(60): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0043 others(58): Show |
63 | 353 | 0.1785 | 3 | c.166 others(22): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 14/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82682047 | C | CTTT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01361.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0230 others(5): Show |
8 | 108 | 0.0741 | 3 | c.361 others(18): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82683047 | G | GTTT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00741.hp1 others(22): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0006t0001others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0034 others(22): Show |
25 | 91 | 0.2747 | 3 | c.361 others(20): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82690706 | T | TGCA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(60): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0043 others(58): Show |
63 | 366 | 0.1721 | 3 | c.114 others(20): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82709806 | A | AGGC | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 |
3 | 366 | 0.0082 | 3 | c.-10 others(12): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/27 | 101 | chr15 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2155531 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG01255.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0009others(2): Show | a0001c0002t0001g0188 a0001c0002t0001g0271 a0001c0002t0001g0274 others(11): Show |
14 | 205 | 0.0683 | 3 | c.-42 others(14): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 3966 | chr19 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74119981 | T | TATC | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02965.hp1 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 others(5): Show |
8 | 332 | 0.0241 | 3 | c.*38 others(14): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 273 | chr10 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42150870 | G | GTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013 | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(16): Show |
38 | 253 | 0.1502 | 3 | c.-23 others(14): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2192 | chr8 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42156045 | T | TATG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(347): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(151): Show |
350 | 390 | 0.8974 | 3 | c.273 others(20): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42162943 | C | CAAA | intron_variant | MODIFIER | HG01993.hp1 HG02055.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0108 a0001c0001t0004g0127 a0001c0001t0004g0139 others(1): Show |
6 | 156 | 0.0385 | 3 | c.583 others(18): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115839122 | C | CAAA | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02258.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0209 others(13): Show |
16 | 202 | 0.0792 | 3 | c.-29 others(14): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2812 | chr5 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115845836 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01256.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 others(10): Show |
13 | 81 | 0.1605 | 3 | c.69+ others(18): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115850292 | C | CCTG | intron_variant | MODIFIER | HG02809.hp1 HG03654.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0324 a0001c0001t0001g0332 a0001c0001t0004g0350 |
3 | 376 | 0.0080 | 3 | c.69+ others(18): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115856642 | C | CATT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(151): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(139): Show |
154 | 376 | 0.4096 | 3 | c.70- others(20): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115869705 | C | CTGA | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 others(10): Show |
13 | 376 | 0.0346 | 3 | c.162 others(18): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115878441 | C | CATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(140): Show |
157 | 376 | 0.4176 | 3 | c.273 others(20): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115914854 | C | CTTT | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01346.hp1 HG01361.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0220 a0001c0001t0001g0222 others(9): Show |
12 | 179 | 0.0670 | 3 | c.*13 others(14): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 774 | chr5 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89854813 | C | CTCT | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0043 | a0001c0001t0002g0192 a0001c0001t0002g0257 a0001c0001t0043g0184 |
3 | 149 | 0.0201 | 3 | c.345 others(22): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89866261 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00621.hp2 others(54): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0048 others(52): Show |
57 | 119 | 0.4790 | 3 | c.345 others(20): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113892712 | T | TAAA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02886.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0020 others(3): Show |
9 | 288 | 0.0313 | 3 | c.*23 others(14): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 1481 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113893250 | G | GTTA | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03098.hp1 NA19030.hp1 |
a0002a0007 | a0002c0002a0007c0012 | a0002c0002t0002a0007c0012t0002 | a0002c0002t0002g0026 a0007c0012t0002g0047 |
3 | 432 | 0.0069 | 3 | c.*18 others(14): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 943 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113897142 | C | CAAA | intron_variant | MODIFIER | NA18940.hp1 NA18963.hp1 NA18967.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0013 a0001c0004t0001g0080 |
7 | 85 | 0.0824 | 3 | c.130 others(20): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113907234 | T | TTTA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02056.hp2 HG02155.hp2 others(9): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0008others(2): Show | a0001c0001t0001g0059 a0001c0003t0001g0004 a0001c0003t0001g0013 others(3): Show |
12 | 392 | 0.0306 | 3 | c.-25 others(14): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2436 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50907295 | G | GTTT | upstream_gene_variant | MODIFIER | HG01175.hp1 HG04199.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0326 a0001c0001t0004g0366 a0001c0001t0004g0380 |
3 | 216 | 0.0139 | 3 | c.-14 others(14): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1387 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50920109 | C | CCTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0003a0002c0002t0002a0002c0003t0003others(8): Show | a0001c0001t0003g0328 a0002c0002t0002g0049 a0002c0002t0002g0082 others(76): Show |
80 | 390 | 0.2051 | 3 | c.347 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50922163 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG02071.hp2 HG02080.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0024 | a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 others(12): Show |
15 | 205 | 0.0732 | 3 | c.347 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50948339 | C | CTTT | intron_variant | MODIFIER | HG01516.hp1 HG02293.hp1 HG02738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0311 others(6): Show |
9 | 192 | 0.0469 | 3 | c.131 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50957671 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01255.hp1 others(28): Show |
a0001a0006a0007 | a0001c0001a0006c0013a0007c0011 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0312 others(28): Show |
31 | 332 | 0.0934 | 3 | c.154 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50962889 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00609.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(3): Show | a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0004g0365 others(25): Show |
28 | 162 | 0.1728 | 3 | c.185 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50965221 | T | TGGC | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG06807.hp1 |
a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 |
3 | 390 | 0.0077 | 3 | c.185 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50982086 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(57): Show |
a0002a0011 | a0002c0002a0002c0003a0002c0006others(1): Show | a0002c0002t0002a0002c0002t0012a0002c0003t0003others(4): Show | a0002c0002t0002g0046 a0002c0002t0002g0062 a0002c0002t0002g0082 others(56): Show |
60 | 211 | 0.2844 | 3 | c.196 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50990344 | T | TTTA | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp1 HG01257.hp2 others(18): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0233 others(18): Show |
21 | 168 | 0.1250 | 3 | c.209 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4M1_chr7_100096643_100114039 | 100103887 | C | CAAA | intron_variant | MODIFIER | HG00673.hp2 HG01361.hp2 HG01433.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 others(13): Show |
29 | 145 | 0.2000 | 3 | c.544 others(18): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31032523 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0206 a0001c0001t0001g0207 others(69): Show |
72 | 223 | 0.3229 | 3 | c.-72 others(20): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31039571 | T | TTTG | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00673.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(59): Show |
62 | 344 | 0.1802 | 3 | c.-72 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31049428 | A | ATAT | intron_variant | MODIFIER | HG01099.hp1 HG03516.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113 others(5): Show |
8 | 186 | 0.0430 | 3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31054867 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0040 | a0001c0001t0001g0118 a0001c0001t0001g0283 a0001c0001t0001g0285 others(13): Show |
16 | 90 | 0.1778 | 3 | c.-71 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31079900 | T | TTAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(168): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(166): Show |
171 | 344 | 0.4971 | 3 | c.295 others(18): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083433 | A | AGTG | intron_variant | MODIFIER | HG02109.hp1 HG03195.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018a0001c0001t0047 | a0001c0001t0015g0263 a0001c0001t0018g0205 a0001c0001t0047g0264 |
3 | 344 | 0.0087 | 3 | c.306 others(20): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 others(65): Show |
68 | 178 | 0.3820 | 3 | c.306 others(20): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5B1_chr11_65768898_65785976 | 65769257 | C | CAAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01106.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0003a0002c0007others(3): Show | a0001c0004t0002a0002c0003t0002a0002c0007t0002others(6): Show | a0001c0004t0002g0005 a0002c0003t0002g0002 a0002c0007t0002g0006 others(6): Show |
20 | 79 | 0.2532 | 3 | c.*85 others(14): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 4640 | chr11 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3818084 | C | CAAA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01123.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 others(12): Show |
26 | 40 | 0.6500 | 3 | c.-26 others(14): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2462 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3818462 | C | CTAG | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02970.hp2 HG03195.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019a0001c0001t0028others(3): Show | a0001c0001t0013g0011 a0001c0001t0019g0010 a0001c0001t0028g0008 others(3): Show |
7 | 410 | 0.0171 | 3 | c.-23 others(14): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2084 | chr20 | TogoVar |