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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP3B1_chr5_77997326_78299698 | 78018459 | TTTTA | T | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(28): Show | 31 | 226 | 0.1372 | -4 | c.299 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78018671 | AACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0004c0017others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | 226 | 0.1903 | -4 | c.299 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78055016 | GACAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(60): Show | 63 | 226 | 0.2788 | -4 | c.257 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78057662 | CACTT | C | intron_variant | MODIFIER | HG02723.hp1 NA19043.hp1 |
a0001a0007 | a0001c0004a0007c0014 | a0001c0004t0002a0007c0014t0002 | a0001c0004t0002g0186a0007c0014t0002g0196 | 2 | 226 | 0.0089 | -4 | c.257 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78064223 | TTAGA | T | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01496.hp1 others(26): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0001t0002g0011a0001c0004t0001g0087a0001c0004t0002g0006others(26): Show | 29 | 226 | 0.1283 | -4 | c.257 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78069478 | TAATG | T | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
a0001a0003a0006 | a0001c0004a0001c0005a0003c0009others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(3): Show | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | 226 | 0.0752 | -4 | c.257 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78126504 | CAAAA | C | intron_variant | MODIFIER | HG01258.hp1 HG01928.hp2 HG01934.hp1 others(24): Show |
a0001a0005a0007 | a0001c0001a0001c0010a0005c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029a0001c0001t0002g0012a0001c0001t0002g0014others(24): Show | 27 | 226 | 0.1195 | -4 | c.196 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78158490 | GCTAA | G | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0012a0003c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(3): Show | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | 226 | 0.2257 | -4 | c.136 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78163601 | ATATG | A | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | 226 | 0.1460 | -4 | c.123 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78166117 | TCACA | T | intron_variant | MODIFIER | HG00408.hp1 HG02071.hp2 HG02602.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(4): Show | a0001c0001t0001g0032a0001c0001t0002g0012a0001c0001t0002g0015others(12): Show | 15 | 226 | 0.0664 | -4 | c.116 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78167623 | TTATA | T | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | 226 | 0.0177 | -4 | c.116 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78169733 | GTTTA | G | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02602.hp2 |
a0002a0003 | a0002c0003a0003c0009 | a0002c0003t0001a0003c0009t0002 | a0002c0003t0001g0049a0003c0009t0002g0074a0003c0009t0002g0078 | 3 | 226 | 0.0133 | -4 | c.116 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193648 | TCAAA | T | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | 226 | 0.0177 | -4 | c.787 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193742 | TTTTA | T | intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126others(2): Show | 5 | 226 | 0.0221 | -4 | c.787 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193744 | TTATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | 226 | 0.1947 | -4 | c.787 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78243273 | CCATT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG02015.hp1 others(15): Show |
a0001a0002a0003 | a0001c0012a0002c0003a0003c0007 | a0001c0012t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0012t0001g0142a0002c0003t0001g0044a0002c0003t0001g0045others(15): Show | 18 | 226 | 0.0797 | -4 | c.205 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78243787 | GAGTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(89): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(89): Show | 92 | 226 | 0.4071 | -4 | c.205 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78272751 | GAGTT | G | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0076a0001c0002t0001g0181a0001c0002t0001g0182others(2): Show | 5 | 226 | 0.0221 | -4 | c.129 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78294168 | TTCAA | T | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0004t0002a0001c0005t0002 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | 226 | 0.0221 | -4 | c.128 others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78296290 | ATAGT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0091others(20): Show | 23 | 226 | 0.1018 | -4 | c.-17 others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1593 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82665376 | AACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01496.hp1 others(31): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0023a0001c0001t0001g0164a0001c0001t0001g0170others(31): Show | 34 | 368 | 0.0924 | -4 | c.197 others(19): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82679668 | TTGAG | T | intron_variant | MODIFIER | HG00323.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0154a0001c0002t0001g0155others(10): Show | 14 | 368 | 0.0380 | -4 | c.118 others(19): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 10/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82685893 | GTTAT | G | intron_variant | MODIFIER | HG01496.hp2 HG01975.hp2 HG01981.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170a0001c0001t0001g0222a0001c0001t0001g0228others(4): Show | 7 | 368 | 0.0190 | -4 | c.360 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82693633 | AGAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01074.hp2 others(21): Show |
a0001a0005 | a0001c0001a0001c0006a0001c0019others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0019t0001others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0323a0001c0001t0001g0343others(21): Show | 24 | 368 | 0.0652 | -4 | c.114 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82700397 | CTTTT | C | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0163a0001c0001t0001g0164others(4): Show | 7 | 368 | 0.0190 | -4 | c.113 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2102725 | CAAAA | C | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0005 | a0001c0001t0001g0055a0001c0001t0001g0057a0001c0023t0005g0059 | 3 | 406 | 0.0074 | -4 | c.355 others(21): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2102728 | AAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(112): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0060others(111): Show | 115 | 406 | 0.2833 | -4 | c.355 others(21): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2126350 | TCTGC | T | intron_variant | MODIFIER | HG00621.hp2 HG02071.hp2 HG02135.hp2 others(4): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0003a0001c0017t0003 | a0001c0001t0003g0351a0001c0001t0003g0365a0001c0001t0003g0370others(4): Show | 7 | 406 | 0.0172 | -4 | c.856 others(19): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 9/31 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2140755 | CTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00642.hp1 others(53): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0049a0001c0001t0001g0130a0001c0001t0001g0202others(53): Show | 56 | 406 | 0.1379 | -4 | c.97- others(19): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2143230 | ATTTT | A | intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 NA18956.hp1 others(3): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0187a0001c0002t0001g0300a0001c0002t0001g0301others(3): Show | 6 | 406 | 0.0148 | -4 | c.97- others(19): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74115387 | GATAA | G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02622.hp2 HG02630.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0124a0001c0001t0002g0001a0001c0001t0002g0169others(11): Show | 17 | 334 | 0.0509 | -4 | c.*84 others(15): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 4867 | chr10 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115845836 | CAAAA | C | intron_variant | MODIFIER | HG02886.hp2 HG03490.hp1 HG03704.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0235a0001c0001t0001g0236others(3): Show | 6 | 378 | 0.0159 | -4 | c.69+ others(19): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP3S1_chr5_115836935_115919081 | 115855019 | ATATC | A | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01496.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0041a0001c0001t0001g0047others(28): Show | 31 | 378 | 0.0820 | -4 | c.70- others(21): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP3S1_chr5_115836935_115919081 | 115868936 | GGGAA | G | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0029a0001c0001t0001g0030others(4): Show | 7 | 378 | 0.0185 | -4 | c.162 others(21): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP3S1_chr5_115836935_115919081 | 115868951 | AAGGG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(144): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0015others(140): Show | 147 | 378 | 0.3889 | -4 | c.162 others(21): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP3S2_chr15_89825599_89898994 | 89836026 | TCAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0277a0001c0001t0002g0015a0001c0001t0002g0016others(110): Show | 113 | 312 | 0.3622 | -4 | c.454 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89842606 | CTTTA | C | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0002c0002t0013 | a0001c0001t0001g0294a0001c0001t0012g0295a0001c0001t0012g0296others(4): Show | 7 | 312 | 0.0224 | -4 | c.346 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89844209 | CTCTT | C | intron_variant | MODIFIER | HG00597.hp2 HG01261.hp1 HG01928.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0058a0001c0001t0003g0087others(20): Show | 23 | 312 | 0.0737 | -4 | c.346 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89844269 | TTCTC | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01167.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0228a0001c0001t0002g0195a0001c0001t0002g0240others(3): Show | 6 | 312 | 0.0192 | -4 | c.346 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89855945 | TAAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01169.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0173others(19): Show | 22 | 312 | 0.0705 | -4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89858455 | AAAAG | A | intron_variant | MODIFIER | HG00738.hp1 HG01358.hp2 HG03195.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0062a0001c0001t0003g0112others(4): Show | 7 | 312 | 0.0224 | -4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89859230 | CTTCT | C | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 HG03453.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0016a0003c0004t0016 | a0001c0001t0016g0301a0001c0001t0016g0302a0003c0004t0016g0304 | 3 | 312 | 0.0096 | -4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89859282 | CTTTT | C | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0186a0002c0002t0013g0187a0002c0002t0013g0310 | 3 | 312 | 0.0096 | -4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89862017 | GTGTC | G | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 HG03225.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0016a0001c0001t0044a0001c0001t0045others(1): Show | a0001c0001t0016g0301a0001c0001t0016g0302a0001c0001t0044g0185others(2): Show | 5 | 312 | 0.0160 | -4 | c.345 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89887698 | TCTCA | T | intron_variant | MODIFIER | HG01167.hp1 HG01261.hp2 HG01928.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0192a0001c0001t0002g0193a0001c0001t0002g0194others(2): Show | 5 | 312 | 0.0160 | -4 | c.273 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89895879 | TTTTG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0124a0001c0001t0001g0153a0001c0001t0001g0154others(153): Show | 156 | 312 | 0.5000 | -4 | c.-19 others(15): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 1886 | chr15 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113906046 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01515.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0003t0001a0004c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(7): Show | 26 | 434 | 0.0599 | -4 | c.-13 others(15): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 1248 | chr1 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50912657 | ATTTT | A | intron_variant | MODIFIER | HG01243.hp2 HG02148.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0292a0001c0001t0001g0293a0001c0001t0001g0295others(6): Show | 9 | 392 | 0.0230 | -4 | c.222 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50918443 | AGTAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0218a0001c0001t0008g0219a0001c0001t0008g0220others(1): Show | 4 | 392 | 0.0102 | -4 | c.346 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50919535 | AAAAT | A | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01109.hp1 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0217a0001c0001t0001g0226a0001c0001t0003g0307others(89): Show | 92 | 392 | 0.2347 | -4 | c.346 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |