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 | 78299009 | AAT | A | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG02109.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0007others(1): Show | a0001c0001t0001a0001c0004t0002a0003c0007t0002others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0144 others(7): Show |
10 | 226 | 0.0443 | -2 | c.-44 others(13): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 4312 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82665376 | AAC | A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01516.hp1 others(20): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0177 others(20): Show |
23 | 368 | 0.0625 | -2 | c.197 others(17): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82697811 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(170): Show |
179 | 368 | 0.4864 | -2 | c.114 others(19): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82702825 | CCT | C | intron_variant | MODIFIER | HG02809.hp2 HG03195.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0092 others(1): Show |
4 | 368 | 0.0109 | -2 | c.113 others(19): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2099848 | CCA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02683.hp2 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0267 a0001c0002t0001g0280 a0001c0002t0001g0294 |
3 | 406 | 0.0074 | -2 | c.*23 others(13): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1139 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2105627 | CTG | C | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp2 HG01517.hp1 others(12): Show |
a0002 | a0002c0007a0002c0009 | a0002c0007t0004a0002c0009t0002 | a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 others(12): Show |
15 | 406 | 0.0370 | -2 | c.355 others(21): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2107802 | GAC | G | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp2 HG01517.hp1 others(12): Show |
a0002 | a0002c0007a0002c0009 | a0002c0007t0004a0002c0009t0002 | a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 others(12): Show |
15 | 406 | 0.0370 | -2 | c.355 others(19): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2110540 | TCA | T | intron_variant | MODIFIER | HG01109.hp1 HG03471.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0132 a0001c0001t0001g0135 |
4 | 406 | 0.0099 | -2 | c.317 others(19): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 27/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2139059 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0012others(10): Show | a0001c0001t0002g0345 a0001c0002t0001g0003 a0001c0002t0001g0004 others(81): Show |
87 | 406 | 0.2143 | -2 | c.97- others(15): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2143230 | ATT | A | intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 HG02055.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0008others(2): Show | a0001c0002t0001a0001c0006t0002a0001c0006t0015others(4): Show | a0001c0002t0001g0261 a0001c0002t0001g0264 a0001c0002t0001g0305 others(12): Show |
15 | 406 | 0.0370 | -2 | c.97- others(17): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2154284 | TTC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(79): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0012others(7): Show | a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0150 others(76): Show |
82 | 406 | 0.2020 | -2 | c.-29 others(13): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 2719 | chr19 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74126970 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0264 a0001c0001t0002g0001 a0001c0001t0002g0006 others(67): Show |
95 | 334 | 0.2844 | -2 | c.804 others(17): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74138597 | GAA | G | intron_variant | MODIFIER | HG02615.hp2 NA18522.hp2 NA18946.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0002 | a0001c0001t0002g0023 a0001c0001t0008g0095 a0001c0001t0008g0096 others(2): Show |
6 | 334 | 0.0180 | -2 | c.-3- others(15): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74139451 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0010 others(94): Show |
126 | 334 | 0.3773 | -2 | c.-3- others(17): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74149267 | GTT | G | intron_variant | MODIFIER | HG00741.hp2 HG02056.hp1 HG02074.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(6): Show |
9 | 334 | 0.0270 | -2 | c.-4+ others(17): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42151176 | GCT | G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 a0001c0001t0004g0041 a0001c0001t0004g0126 others(2): Show |
8 | 392 | 0.0204 | -2 | c.-20 others(13): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 1886 | chr8 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42158248 | TTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(49): Show |
99 | 392 | 0.2526 | -2 | c.445 others(17): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42166591 | CAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01099.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0104 others(4): Show |
15 | 392 | 0.0383 | -2 | c.804 others(17): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42171876 | ATT | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02622.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0007 a0001c0001t0003g0148 a0001c0001t0003g0151 others(7): Show |
12 | 392 | 0.0306 | -2 | c.*28 others(13): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 694 | chr8 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42172194 | ATT | A | downstream_gene_variant | MODIFIER | HG01975.hp1 HG02165.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0007 a0001c0001t0003g0002 |
6 | 392 | 0.0153 | -2 | c.*31 others(13): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 1012 | chr8 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42172358 | ATT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 others(7): Show |
14 | 392 | 0.0357 | -2 | c.*32 others(13): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 1176 | chr8 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115854992 | ATG | A | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(5): Show |
8 | 378 | 0.0212 | -2 | c.70- others(19): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115868980 | AGG | A | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0215 a0001c0001t0001g0316 a0001c0001t0005g0216 |
3 | 378 | 0.0079 | -2 | c.162 others(19): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115900062 | AAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0067 a0001c0001t0001g0068 others(3): Show |
6 | 378 | 0.0159 | -2 | c.346 others(19): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115901392 | CTT | C | intron_variant | MODIFIER | HG01516.hp1 HG01891.hp1 HG01943.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0001g0140 others(16): Show |
19 | 378 | 0.0503 | -2 | c.346 others(19): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115909827 | CTG | C | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0233 a0002c0002t0001g0229 a0002c0002t0001g0230 |
3 | 378 | 0.0079 | -2 | c.454 others(19): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115910265 | TAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0089 a0001c0001t0001g0090 others(27): Show |
31 | 378 | 0.0820 | -2 | c.454 others(19): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89832486 | ATT | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0056 others(104): Show |
107 | 312 | 0.3430 | -2 | c.*30 others(13): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 6/6 | 3027 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89847375 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(59): Show |
62 | 312 | 0.1987 | -2 | c.346 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89851802 | ATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(223): Show |
226 | 312 | 0.7244 | -2 | c.346 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89855945 | TAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(46): Show |
49 | 312 | 0.1571 | -2 | c.345 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89856701 | CAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02004.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0022 a0001c0001t0002g0217 a0001c0001t0002g0268 others(18): Show |
21 | 312 | 0.0673 | -2 | c.345 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89857410 | ACT | A | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0043 | a0001c0001t0001g0294 a0001c0001t0012g0295 a0001c0001t0012g0296 others(2): Show |
5 | 312 | 0.0160 | -2 | c.345 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858491 | GAA | G | intron_variant | MODIFIER | HG00642.hp2 HG02257.hp1 HG02735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0054 others(6): Show |
9 | 312 | 0.0289 | -2 | c.345 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89865230 | AAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00609.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(14): Show | a0001c0001t0003g0001 a0001c0001t0003g0058 a0001c0001t0003g0066 others(85): Show |
88 | 312 | 0.2821 | -2 | c.345 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89869567 | TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(112): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0154 others(112): Show |
115 | 312 | 0.3686 | -2 | c.345 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89874127 | GTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(202): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(202): Show |
205 | 312 | 0.6571 | -2 | c.274 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89880932 | GAA | G | intron_variant | MODIFIER | HG02723.hp1 HG03139.hp1 HG03209.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0007a0001c0001t0016a0001c0001t0044others(2): Show | a0001c0001t0007g0013 a0001c0001t0016g0301 a0001c0001t0016g0302 others(3): Show |
6 | 312 | 0.0192 | -2 | c.273 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89885934 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(53): Show |
56 | 312 | 0.1795 | -2 | c.273 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89894933 | CCA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(157): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0154 others(157): Show |
160 | 312 | 0.5128 | -2 | c.-98 others(11): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 940 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89895625 | CTG | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(157): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0154 others(157): Show |
160 | 312 | 0.5128 | -2 | c.-16 others(13): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 1632 | chr15 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113890391 | CAA | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01169.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0044 a0002c0002t0002g0016 others(1): Show |
8 | 434 | 0.0184 | -2 | c.*46 others(13): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 3802 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113906046 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp2 others(113): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0015 a0001c0001t0002g0058 a0001c0003t0001g0031 others(23): Show |
116 | 434 | 0.2673 | -2 | c.-13 others(13): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 1248 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113908803 | GCA | G | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00738.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0002g0022 a0001c0001t0002g0047 others(18): Show |
50 | 434 | 0.1152 | -2 | c.-40 others(13): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 4005 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50907294 | GGT | G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG02109.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0005a0002c0003t0003a0002c0003t0006others(2): Show | a0001c0001t0005g0301 a0002c0003t0003g0126 a0002c0003t0003g0130 others(7): Show |
10 | 392 | 0.0255 | -2 | c.-14 others(13): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1388 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50911479 | ATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(184): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(181): Show |
187 | 392 | 0.4770 | -2 | c.151 others(17): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50914650 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(278): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0010a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(274): Show |
281 | 392 | 0.7168 | -2 | c.223 others(17): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50917536 | CAG | C | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 others(4): Show |
7 | 392 | 0.0179 | -2 | c.346 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50917795 | CAG | C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0028 | a0001c0001t0001g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 others(3): Show |
6 | 392 | 0.0153 | -2 | c.346 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50928714 | GTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(79): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0002others(6): Show | a0001c0001t0001g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 others(78): Show |
82 | 392 | 0.2092 | -2 | c.543 others(17): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |