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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1S3_chr2_223750326_223842582 | 223833882 | T | TTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(89): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0050others(89): Show | 92 | 340 | 0.2706 | 4 | c.3+3 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49767008 | A | AGCCC | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00642.hp2 others(42): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0006t0002a0001c0007t0002others(1): Show | a0001c0001t0002g0006a0001c0001t0002g0019a0001c0001t0002g0020others(41): Show | 45 | 342 | 0.1316 | 4 | c.-12 others(13): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/23 | 121 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP2A1_chr19_49762001_49812114 | 49777076 | G | GAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp2 others(56): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0088others(53): Show | 59 | 342 | 0.1725 | 4 | c.68- others(19): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49800449 | T | TTTTG | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01099.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0162others(19): Show | 25 | 342 | 0.0731 | 4 | c.145 others(21): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 921972 | C | CAAAG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(90): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(90): Show | 93 | 268 | 0.3470 | 4 | c.-40 others(15): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 3897 | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 974682 | C | CAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(16): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(2): Show | a0001c0002t0002g0226a0001c0002t0002g0233a0001c0002t0002g0234others(16): Show | 19 | 268 | 0.0709 | 4 | c.474 others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 974698 | A | AAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0093a0001c0001t0001g0110a0001c0001t0001g0111others(3): Show | 6 | 268 | 0.0224 | 4 | c.474 others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 984125 | C | CACTT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0009 | a0001c0002t0002g0003a0001c0002t0002g0004a0001c0004t0009g0260others(1): Show | 4 | 268 | 0.0149 | 4 | c.706 others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTCTC | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0004g0160a0001c0001t0005g0146a0001c0001t0005g0157others(17): Show | 20 | 372 | 0.0538 | 4 | c.-39 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTTTC | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02129.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0228a0001c0002t0001g0241a0001c0002t0001g0277others(5): Show | 8 | 372 | 0.0215 | 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 | a0001c0004t0002g0123a0001c0004t0002g0124a0001c0004t0002g0125 | 3 | 372 | 0.0081 | 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 | a0001c0001t0006g0067a0001c0001t0006g0085a0001c0001t0007g0004others(1): Show | 4 | 372 | 0.0108 | 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 | a0001c0001t0004g0160a0001c0001t0007g0348a0001c0001t0007g0350others(18): Show | 21 | 372 | 0.0565 | 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 | a0001c0001t0004g0318a0001c0001t0004g0320a0001c0001t0004g0321others(33): Show | 36 | 372 | 0.0968 | 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 | a0001c0001t0002g0002a0001c0001t0002g0170a0001c0001t0002g0171others(6): Show | 10 | 372 | 0.0269 | 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 | a0001c0001t0002g0121a0001c0001t0004g0323a0001c0001t0004g0331others(7): Show | 10 | 372 | 0.0269 | 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 | a0001c0001t0002g0111a0001c0001t0002g0112a0001c0001t0003g0015others(1): Show | 4 | 372 | 0.0108 | 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 | a0001c0001t0001g0012a0001c0001t0001g0022a0001c0001t0001g0041others(27): Show | 37 | 424 | 0.0873 | 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 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(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 | 78053693 | A | AAAAG | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00741.hp2 others(35): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0005t0002others(3): Show | a0001c0001t0002g0011a0001c0001t0002g0021a0001c0002t0002g0064others(35): Show | 38 | 226 | 0.1681 | 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 | a0001c0004t0002g0007a0001c0005t0001g0195a0001c0005t0002g0004others(3): Show | 6 | 226 | 0.0266 | 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 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(36): Show | 39 | 226 | 0.1726 | 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 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0002g0012others(32): Show | 35 | 226 | 0.1549 | 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 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | 226 | 0.0089 | 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 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(70): Show | 73 | 226 | 0.3230 | 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 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(103): Show | 106 | 226 | 0.4690 | 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 | a0001c0004t0001g0077a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | 226 | 0.0133 | 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 | a0001c0001t0001g0042a0001c0001t0001g0075a0001c0001t0001g0076others(52): Show | 55 | 226 | 0.2434 | 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 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | 226 | 0.0221 | 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(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | 226 | 0.3805 | 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 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(35): Show | 38 | 226 | 0.1681 | 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 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0002t0002g0169others(2): Show | 5 | 226 | 0.0221 | 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(23): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0006t0001a0002c0003t0001 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(23): Show | 26 | 226 | 0.1150 | 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 | a0001c0001t0001g0172a0001c0001t0001g0179a0001c0001t0001g0188others(13): Show | 16 | 368 | 0.0435 | 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 |
a0001a0005 | a0001c0001a0001c0002a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0137a0001c0001t0001g0139a0001c0001t0001g0141others(17): Show | 20 | 368 | 0.0544 | 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 |
a0001a0007 | a0001c0001a0001c0013a0001c0014others(1): Show | a0001c0001t0001a0001c0013t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0157a0001c0001t0001g0171others(54): Show | 57 | 368 | 0.1549 | 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 | a0001c0001t0001g0034a0001c0001t0001g0098a0001c0001t0001g0106others(6): Show | 9 | 368 | 0.0245 | 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 | a0001c0001t0001g0050a0001c0001t0002g0188a0001c0001t0003g0249others(12): Show | 15 | 334 | 0.0449 | 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 | a0001c0001t0008g0094a0001c0001t0008g0095a0001c0001t0008g0096others(1): Show | 4 | 334 | 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 | a0001c0001t0003g0008a0001c0001t0003g0011a0001c0001t0003g0012others(60): Show | 78 | 334 | 0.2335 | 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(92): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0007a0001c0001t0002g0008others(46): Show | 95 | 392 | 0.2424 | 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 | a0001c0001t0002g0005a0001c0001t0002g0007a0001c0001t0002g0008others(20): Show | 28 | 392 | 0.0714 | 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(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0008a0001c0001t0002g0009others(20): Show | 49 | 392 | 0.1250 | 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 | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0029others(79): Show | 83 | 378 | 0.2196 | 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 | a0001c0001t0002g0344a0001c0001t0002g0345a0001c0001t0002g0346others(1): Show | 4 | 378 | 0.0106 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(71): Show | 85 | 378 | 0.2249 | 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 | a0001c0001t0001g0349a0001c0001t0001g0350a0001c0001t0004g0351 | 3 | 378 | 0.0079 | 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 | a0001c0001t0001g0153a0001c0001t0001g0161a0001c0001t0001g0164others(91): Show | 94 | 312 | 0.3013 | 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 | a0001c0001t0003g0096a0001c0001t0003g0144a0001c0001t0008g0117 | 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 | 89858523 | G | GAGAA | intron_variant | MODIFIER | HG00099.hp1 HG02071.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0022a0001c0001t0027 | a0001c0001t0005g0068a0001c0001t0022g0029a0001c0001t0027g0104 | 3 | 312 | 0.0096 | 4 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar |