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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2B1_chr17_35582322_35731413 | 35629529 | TATGA | T | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 others(4): Show |
7 | 372 | 0.0188 | -4 | c.115 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35648524 | GCATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0170 a0001c0001t0002g0171 others(53): Show |
57 | 372 | 0.1532 | -4 | c.153 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35648743 | AGTGT | A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 a0001c0001t0002g0113 a0001c0001t0002g0115 |
3 | 372 | 0.0081 | -4 | c.153 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35678959 | GTTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(179): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(9): Show | a0001c0001t0004g0160 a0001c0001t0004g0318 a0001c0001t0004g0320 others(178): Show |
182 | 372 | 0.4893 | -4 | c.232 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35718312 | CTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0118 a0001c0001t0002g0170 others(30): Show |
34 | 372 | 0.0914 | -4 | c.278 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720545 | TTATA | T | intron_variant | MODIFIER | HG03041.hp1 HG03491.hp2 NA18969.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 a0001c0002t0001g0229 a0001c0002t0001g0232 others(2): Show |
5 | 372 | 0.0134 | -4 | c.278 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | ATTTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0003t0001others(1): Show | a0001c0001t0004g0343 a0001c0001t0008g0059 a0001c0003t0001g0204 others(4): Show |
7 | 372 | 0.0188 | -4 | c.278 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAA | G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(1): Show |
8 | 422 | 0.0190 | -4 | c.-41 others(13): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46845413 | GTAAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(198): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(145): Show |
201 | 424 | 0.4741 | -4 | c.153 others(19): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46855738 | AAGAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(207): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(155): Show |
210 | 424 | 0.4953 | -4 | c.-49 others(15): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4893 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78000601 | TAATA | T | downstream_gene_variant | MODIFIER | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(2): Show | a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 others(26): Show |
29 | 226 | 0.1283 | -4 | c.*22 others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1724 | chr5 | TogoVar | |||||||
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 | a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0014 others(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 | a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0002g0115 others(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 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0037 others(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 |
a0001a0006 | a0001c0004a0006c0014 | a0001c0004t0002a0006c0014t0002 | a0001c0004t0002g0186 a0006c0014t0002g0196 |
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 |
a0001a0003a0007 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0001t0002g0011 a0001c0004t0001g0087 a0001c0004t0002g0006 others(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 |
a0001a0003a0007 | a0001c0004a0001c0005a0003c0009others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(3): Show | a0001c0004t0001g0087 a0001c0004t0002g0006 a0001c0004t0002g0007 others(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 |
a0001a0005a0006 | a0001c0001a0001c0010a0005c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029 a0001c0001t0002g0012 a0001c0001t0002g0014 others(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 | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(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 | a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 others(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 | a0001c0001t0001g0032 a0001c0001t0002g0012 a0001c0001t0002g0015 others(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 | a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 others(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 | a0002c0003t0001g0049 a0003c0009t0002g0074 a0003c0009t0002g0078 |
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 | a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 others(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 | a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0126 others(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 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0083 others(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 | a0001c0012t0001g0142 a0002c0003t0001g0044 a0002c0003t0001g0045 others(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 | a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 others(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 | a0001c0001t0001g0076 a0001c0002t0001g0181 a0001c0002t0001g0182 others(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 | a0001c0004t0001g0005 a0001c0004t0002g0001 a0001c0004t0002g0002 others(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 | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0091 others(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 | a0001c0001t0001g0024 a0001c0001t0001g0164 a0001c0001t0001g0170 others(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 | a0001c0002t0001g0004 a0001c0002t0001g0154 a0001c0002t0001g0155 others(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 | a0001c0001t0001g0170 a0001c0001t0001g0222 a0001c0001t0001g0228 others(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 |
a0001a0007 | a0001c0001a0001c0006a0001c0021others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0021t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0323 a0001c0001t0001g0343 others(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 | a0001c0001t0001g0034 a0001c0001t0001g0163 a0001c0001t0001g0164 others(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 | a0001c0001a0001c0028 | a0001c0001t0001a0001c0028t0005 | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0028t0005g0059 |
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 |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0065 others(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 |
a0001a0013 | a0001c0001a0001c0022a0013c0024 | a0001c0001t0003a0001c0022t0003a0013c0024t0003 | a0001c0001t0003g0351 a0001c0001t0003g0370 a0001c0001t0003g0375 others(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 |
a0001a0003a0008others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0001g0049 a0001c0001t0001g0130 a0001c0001t0001g0202 others(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 | a0001c0002t0001g0187 a0001c0002t0001g0300 a0001c0002t0001g0301 others(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 | a0001c0001t0001g0124 a0001c0001t0002g0001 a0001c0001t0002g0169 others(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 | a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 others(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 | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0047 others(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 | a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 others(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 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 others(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 | a0001c0001t0001g0277 a0001c0001t0002g0015 a0001c0001t0002g0016 others(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 | a0001c0001t0001g0294 a0001c0001t0012g0295 a0001c0001t0012g0296 others(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 | a0001c0001t0003g0001 a0001c0001t0003g0058 a0001c0001t0003g0087 others(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 | a0001c0001t0001g0228 a0001c0001t0002g0195 a0001c0001t0002g0240 others(3): Show |
6 | 312 | 0.0192 | -4 | c.346 others(21): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar |