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 | 35583514 | T | TTTTC | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02129.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0199 a0001c0002t0001g0233 a0001c0002t0001g0248 others(5): Show |
8 | 75 | 0.1067 | 4 | c.-39 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35611464 | C | CGTGT | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG03098.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0125 a0001c0004t0002g0126 a0001c0004t0002g0127 |
3 | 360 | 0.0083 | 4 | c.525 others(21): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35612878 | G | GCACA | intron_variant | MODIFIER | HG01123.hp1 HG01257.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0007a0001c0004t0002 | a0001c0001t0006g0077 a0001c0001t0006g0089 a0001c0001t0007g0006 others(1): Show |
4 | 347 | 0.0115 | 4 | c.525 others(21): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35614655 | T | TAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01978.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0004g0158 a0001c0001t0007g0346 a0001c0001t0007g0348 others(18): Show |
21 | 147 | 0.1429 | 4 | c.525 others(21): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35648743 | A | AGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 others(33): Show |
36 | 63 | 0.5714 | 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 | 35700108 | A | AAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0168 a0001c0001t0002g0169 others(6): Show |
10 | 370 | 0.0270 | 4 | c.245 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35718312 | C | CTGTG | intron_variant | MODIFIER | HG01993.hp2 HG02071.hp2 HG02074.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0123 a0001c0001t0004g0321 a0001c0001t0004g0329 others(7): Show |
10 | 129 | 0.0775 | 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 | T | TTATA | intron_variant | MODIFIER | HG03225.hp2 NA18965.hp1 NA18965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0003g0017 others(1): Show |
4 | 285 | 0.0140 | 4 | c.278 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46855092 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00639.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0041 others(27): Show |
37 | 144 | 0.2569 | 4 | c.-43 others(15): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78018671 | A | AACAC | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01346.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0014 others(40): Show |
43 | 148 | 0.2905 | 4 | c.299 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78053693 | A | AAAAG | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00741.hp2 others(35): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0005t0002others(3): Show | a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0002t0002g0075 others(35): Show |
38 | 195 | 0.1949 | 4 | c.257 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78084521 | C | CAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0001a0001c0005t0002 | a0001c0004t0002g0007 a0001c0005t0001g0195 a0001c0005t0002g0004 others(3): Show |
6 | 105 | 0.0571 | 4 | c.257 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78106462 | A | AAAAG | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(36): Show |
a0001a0004a0008 | a0001c0002a0004c0017a0008c0011 | a0001c0002t0001a0001c0002t0002a0004c0017t0002others(1): Show | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(36): Show |
39 | 220 | 0.1773 | 4 | c.239 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78110684 | C | CTGTG | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG01928.hp2 others(32): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0012 others(32): Show |
35 | 146 | 0.2397 | 4 | c.225 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78135540 | T | TTAAA | intron_variant | MODIFIER | HG02135.hp1 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 a0001c0002t0002g0169 |
2 | 118 | 0.0169 | 4 | c.165 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78143436 | G | GTAAA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0004a0001c0005others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(9): Show | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(70): Show |
73 | 224 | 0.3259 | 4 | c.147 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78150552 | G | GAAGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(103): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(103): Show |
106 | 224 | 0.4732 | 4 | c.147 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78151811 | T | TTTCC | intron_variant | MODIFIER | HG00642.hp2 HG02630.hp1 HG02809.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0077 a0001c0004t0002g0007 a0001c0004t0002g0185 |
3 | 224 | 0.0134 | 4 | c.147 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78202552 | A | AGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0076 others(52): Show |
55 | 70 | 0.7857 | 4 | c.786 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78209095 | T | TACAC | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0002a0003c0008t0002 | a0001c0004t0002g0006 a0003c0008t0002g0035 a0003c0008t0002g0036 others(2): Show |
5 | 222 | 0.0225 | 4 | c.786 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78230415 | C | CCATT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(82): Show |
85 | 224 | 0.3795 | 4 | c.280 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78243273 | C | CCATT | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(35): Show |
38 | 197 | 0.1929 | 4 | c.205 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78279907 | A | AATAT | intron_variant | MODIFIER | HG02135.hp1 HG02735.hp1 HG04228.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0002t0002g0169 others(2): Show |
5 | 102 | 0.0490 | 4 | c.129 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78291420 | G | GAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01256.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0006t0001a0002c0003t0001 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(22): Show |
25 | 102 | 0.2451 | 4 | c.128 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82665376 | A | AACAC | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00597.hp1 others(13): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0005 a0001c0001t0001g0175 a0001c0001t0001g0182 others(13): Show |
16 | 43 | 0.3721 | 4 | c.197 others(19): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82670112 | T | TGGGG | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00741.hp2 others(17): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 others(17): Show |
20 | 240 | 0.0833 | 4 | c.166 others(23): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 14/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82682047 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(54): Show |
a0001a0005 | a0001c0001a0001c0013a0001c0014others(1): Show | a0001c0001t0001a0001c0013t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0160 a0001c0001t0001g0174 others(54): Show |
57 | 157 | 0.3631 | 4 | c.361 others(19): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82683047 | G | GTTTT | intron_variant | MODIFIER | HG02027.hp1 HG02071.hp1 NA18949.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0037 a0001c0001t0001g0101 a0001c0001t0001g0109 others(6): Show |
9 | 75 | 0.1200 | 4 | c.361 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74115387 | G | GATAA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0050 a0001c0001t0002g0159 a0001c0001t0003g0248 others(12): Show |
15 | 264 | 0.0568 | 4 | c.*84 others(15): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 4867 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74119496 | A | ATATT | downstream_gene_variant | MODIFIER | HG01069.hp1 HG02615.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0094 a0001c0001t0008g0095 a0001c0001t0008g0096 others(1): Show |
4 | 332 | 0.0120 | 4 | c.*43 others(15): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 758 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74153046 | G | GAATT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(75): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 others(60): Show |
78 | 332 | 0.2349 | 4 | c.-22 others(15): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 2219 | chr10 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42148231 | T | TATAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(45): Show |
94 | 390 | 0.2410 | 4 | c.-49 others(15): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 4831 | chr8 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42150870 | G | GTTTT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00735.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(19): Show |
28 | 243 | 0.1152 | 4 | c.-23 others(15): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2192 | chr8 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42162943 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(4): Show | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 others(19): Show |
48 | 198 | 0.2424 | 4 | c.583 others(19): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115855019 | A | ATATC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0030 others(79): Show |
83 | 321 | 0.2586 | 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 | 115868943 | A | AAGGG | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 others(1): Show |
4 | 375 | 0.0107 | 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 | 115868947 | A | AAGGG | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00738.hp2 others(82): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(71): Show |
85 | 340 | 0.2500 | 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 | A | AAGGG | intron_variant | MODIFIER | HG02809.hp1 HG03098.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0004g0350 |
3 | 96 | 0.0313 | 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 | 89854796 | T | TGGGG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0155 others(85): Show |
94 | 208 | 0.4519 | 4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858455 | A | AAAAG | intron_variant | MODIFIER | HG01975.hp2 HG02293.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0102 a0001c0001t0003g0146 a0001c0001t0008g0119 |
3 | 300 | 0.0100 | 4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858523 | G | GAGAA | intron_variant | MODIFIER | HG00099.hp1 HG02071.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0022a0001c0001t0027 | a0001c0001t0005g0077 a0001c0001t0022g0042 a0001c0001t0027g0106 |
3 | 229 | 0.0131 | 4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89859164 | G | GTCCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(209): Show |
226 | 310 | 0.7290 | 4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89859399 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(199): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(186): Show |
202 | 284 | 0.7113 | 4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89894969 | C | CATAT | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0036others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 others(8): Show |
11 | 251 | 0.0438 | 4 | c.-10 others(15): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 976 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50919535 | A | AAAAT | intron_variant | MODIFIER | HG00609.hp1 HG03098.hp2 HG03491.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0003 | a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0003t0003g0127 others(3): Show |
6 | 169 | 0.0355 | 4 | c.346 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50962889 | C | CAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02300.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0001a0001c0001t0004a0002c0003t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0208 a0001c0001t0004g0367 others(8): Show |
12 | 146 | 0.0822 | 4 | c.185 others(23): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCACA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(62): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0196 a0001c0001t0001g0257 a0001c0001t0001g0269 others(61): Show |
65 | 142 | 0.4577 | 4 | c.185 others(23): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50982086 | C | CAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01891.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0022 | a0002c0003t0003g0142 a0002c0003t0003g0144 a0002c0003t0003g0152 others(7): Show |
10 | 161 | 0.0621 | 4 | c.196 others(23): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31028596 | T | TACAC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 others(54): Show |
57 | 246 | 0.2317 | 4 | c.-72 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31032523 | A | ATTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0193 others(44): Show |
48 | 199 | 0.2412 | 4 | c.-72 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |