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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1AR_chr4_112226787_112278110 | 112269093 | G | GATATAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00735.hp2 others(24): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0024a0001c0001t0027others(1): Show | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0045 others(11): Show |
27 | 228 | 0.1184 | 6 | c.*69 others(15): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 10/10 | 703 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29366833 | G | GACACAC | intron_variant | MODIFIER | HG02622.hp1 HG03017.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0003 | a0001c0001t0001g0185 a0001c0002t0001g0241 a0001c0002t0001g0257 others(2): Show |
5 | 76 | 0.0658 | 6 | c.37+ others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01071.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001a0002c0002t0004others(4): Show | a0001c0001t0009g0085 a0002c0002t0001g0048 a0002c0002t0001g0126 others(11): Show |
14 | 70 | 0.2000 | 6 | c.-3- others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215191 | A | AGGCAGG | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01192.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0109a0001c0001t0124a0001c0002t0001others(5): Show | a0001c0001t0109g0249 a0001c0001t0124g0245 a0001c0002t0001g0107 others(9): Show |
12 | 306 | 0.0392 | 6 | c.546 others(23): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTGTTG | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(35): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(19): Show | a0001c0001t0005g0216 a0001c0001t0005g0219 a0001c0001t0005g0225 others(35): Show |
38 | 86 | 0.4419 | 6 | c.*10 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10481 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTG | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0001t0018others(21): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0010 others(53): Show |
63 | 111 | 0.5676 | 6 | c.*10 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01167.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(15): Show | a0001c0001t0002g0046 a0001c0001t0003g0032 a0001c0001t0003g0205 others(17): Show |
20 | 109 | 0.1835 | 6 | c.*15 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAA | downstream_gene_variant | MODIFIER | NA18942.hp2 NA18947.hp1 NA18948.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0218 others(12): Show |
19 | 27 | 0.7037 | 6 | c.*25 others(17): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10571167 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01433.hp1 HG02083.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0111 a0001c0002t0002g0159 a0001c0002t0002g0185 others(9): Show |
12 | 91 | 0.1319 | 6 | c.*18 others(17): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1503 | chr19 | TogoVar | |||||||
AP1S1_chr7_101149476_101166276 | 101160959 | T | TACCTCC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(191): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(40): Show |
194 | 430 | 0.4512 | 6 | c.*39 others(15): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 5/5 | 403 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP1S2_chrX_15820806_15859813 | 15823107 | C | CAGCCGG | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0130 a0001c0001t0002g0024 a0001c0001t0002g0089 others(3): Show |
7 | 316 | 0.0222 | 6 | c.*42 others(17): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 2698 | chrX | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATATAT | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp1 NA18944.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 others(6): Show |
9 | 190 | 0.0474 | 6 | c.427 others(23): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223765159 | C | CCATCAT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp2 others(97): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(96): Show |
100 | 203 | 0.4926 | 6 | c.429 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223770497 | T | TACACAC | intron_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG01433.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0138 a0001c0001t0001g0160 others(18): Show |
22 | 33 | 0.6667 | 6 | c.292 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223770727 | A | ATTTTTT | intron_variant | MODIFIER | HG01433.hp1 HG01496.hp1 HG02027.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0027others(5): Show | a0001c0001t0002g0008 a0001c0001t0002g0098 a0001c0001t0003g0013 others(8): Show |
11 | 55 | 0.2000 | 6 | c.291 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780276 | A | AATATAT | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG01981.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0123 a0001c0001t0002g0221 a0001c0001t0002g0234 others(7): Show |
10 | 254 | 0.0394 | 6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780353 | A | AGTGTGT | intron_variant | MODIFIER | HG00423.hp1 HG02258.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0030others(1): Show | a0001c0001t0003g0224 a0001c0001t0005g0210 a0001c0001t0030g0246 others(1): Show |
4 | 146 | 0.0274 | 6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780355 | A | AGTGTGT | intron_variant | MODIFIER | HG02523.hp2 NA18995.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0088 a0001c0001t0005g0333 a0001c0001t0016g0288 |
3 | 107 | 0.0280 | 6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223799208 | G | GACACAC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0162 others(55): Show |
58 | 92 | 0.6304 | 6 | c.4-2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01433.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0014 a0001c0001t0002g0007 a0001c0001t0002g0310 others(24): Show |
27 | 159 | 0.1698 | 6 | c.3+2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223817607 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 others(96): Show |
99 | 314 | 0.3153 | 6 | c.3+1 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223819985 | A | ATCAGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0122 others(71): Show |
75 | 338 | 0.2219 | 6 | c.3+1 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTGTGTG | intron_variant | MODIFIER | HG01884.hp1 HG02071.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0232 others(9): Show |
12 | 194 | 0.0619 | 6 | c.3+5 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49808544 | A | ACCCCTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 others(9): Show |
12 | 340 | 0.0353 | 6 | c.*17 others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1431 | chr19 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTCTCTC | upstream_gene_variant | MODIFIER | HG02135.hp2 HG02257.hp2 HG02922.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0187 a0001c0002t0001g0202 a0001c0002t0001g0213 others(8): Show |
11 | 78 | 0.1410 | 6 | c.-39 others(17): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTTTCTC | upstream_gene_variant | MODIFIER | HG03710.hp2 NA18942.hp2 NA18944.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0191 a0001c0002t0001g0230 a0001c0002t0001g0265 others(1): Show |
4 | 71 | 0.0563 | 6 | c.-39 others(17): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35594594 | A | AAAAAGC | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 others(1): Show |
4 | 370 | 0.0108 | 6 | c.37+ others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35648743 | A | AGTGTGT | intron_variant | MODIFIER | HG01981.hp1 HG01993.hp2 HG02040.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0009a0001c0002t0001others(3): Show | a0001c0001t0004g0341 a0001c0001t0009g0159 a0001c0001t0009g0160 others(28): Show |
31 | 58 | 0.5345 | 6 | c.153 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35707134 | C | CTTGTTG | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(132): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0003g0021 a0001c0002t0001g0005 a0001c0002t0001g0062 others(131): Show |
135 | 363 | 0.3719 | 6 | c.245 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATT | intron_variant | MODIFIER | HG02165.hp1 NA18946.hp1 NA18964.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0012 a0001c0001t0003g0034 a0001c0001t0003g0042 others(3): Show |
6 | 199 | 0.0302 | 6 | c.278 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46855092 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0223 others(4): Show |
7 | 114 | 0.0614 | 6 | c.-43 others(17): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78018671 | A | AACACAC | intron_variant | MODIFIER | HG01168.hp1 HG01258.hp1 HG01884.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0002a0001c0005t0002others(2): Show | a0001c0001t0002g0023 a0001c0001t0002g0122 a0001c0001t0002g0123 others(11): Show |
14 | 119 | 0.1176 | 6 | c.299 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78053697 | A | AAGAAAG | intron_variant | MODIFIER | HG02630.hp1 HG03130.hp2 NA18978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0032 a0001c0001t0002g0017 a0001c0004t0001g0077 others(2): Show |
5 | 123 | 0.0407 | 6 | c.257 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78068358 | A | AAGAAGG | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(80): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(80): Show |
83 | 204 | 0.4069 | 6 | c.257 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78110684 | C | CTGTGTG | intron_variant | MODIFIER | HG01258.hp1 HG01346.hp1 HG01884.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0013 a0001c0001t0002g0093 a0001c0001t0002g0094 others(9): Show |
12 | 123 | 0.0976 | 6 | c.225 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01258.hp1 others(27): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0002g0012 others(27): Show |
30 | 197 | 0.1523 | 6 | c.787 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78202552 | A | AGTGTGT | intron_variant | MODIFIER | HG01515.hp1 HG02015.hp1 HG02723.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0007others(1): Show | a0001c0002t0002a0002c0003t0001a0003c0007t0002others(1): Show | a0001c0002t0002g0152 a0001c0002t0002g0174 a0002c0003t0001g0045 others(7): Show |
10 | 25 | 0.4000 | 6 | c.786 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78202556 | T | TGTGTGA | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG03540.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0002a0003c0008t0002 | a0001c0004t0002g0001 a0001c0004t0002g0003 a0003c0008t0002g0035 others(2): Show |
5 | 224 | 0.0223 | 6 | c.786 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78229570 | T | TAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(25): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0002g0011 others(25): Show |
28 | 210 | 0.1333 | 6 | c.280 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82665376 | A | AACACAC | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG02027.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0185 others(8): Show |
11 | 38 | 0.2895 | 6 | c.197 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82682047 | C | CTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0036 a0001c0001t0001g0161 a0001c0001t0001g0162 others(11): Show |
14 | 114 | 0.1228 | 6 | c.361 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2103473 | A | ACCAGAG | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp2 HG01517.hp1 others(12): Show |
a0002 | a0002c0007a0002c0009 | a0002c0007t0004a0002c0009t0002 | a0002c0007t0004g0385 a0002c0007t0004g0386 a0002c0007t0004g0387 others(12): Show |
15 | 404 | 0.0371 | 6 | c.355 others(25): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858523 | G | GAAAGAA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0002g0066 a0001c0001t0003g0096 a0001c0001t0003g0097 others(5): Show |
8 | 234 | 0.0342 | 6 | c.345 others(25): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858523 | G | GAGAGAA | intron_variant | MODIFIER | HG00609.hp2 HG02965.hp2 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017 | a0001c0001t0001g0052 a0001c0001t0001g0263 a0001c0001t0003g0100 others(1): Show |
4 | 230 | 0.0174 | 6 | c.345 others(25): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89867023 | C | CCCCTCT | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0277 a0001c0001t0002g0257 a0001c0001t0012g0278 others(3): Show |
6 | 309 | 0.0194 | 6 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89894969 | C | CATATAT | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0005 a0001c0001t0007g0018 a0001c0001t0007g0025 others(2): Show |
5 | 245 | 0.0204 | 6 | c.-10 others(17): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 976 | chr15 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTT | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(30): Show |
a0002 | a0002c0002a0002c0007a0002c0009 | a0002c0002t0002a0002c0002t0004a0002c0007t0002others(1): Show | a0002c0002t0002g0003 a0002c0002t0002g0018 a0002c0002t0002g0019 others(7): Show |
33 | 149 | 0.2215 | 6 | c.-24 others(17): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCACACA | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG02809.hp2 others(12): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0199 a0001c0001t0004g0354 a0001c0001t0004g0358 others(12): Show |
15 | 92 | 0.1630 | 6 | c.185 others(25): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50977710 | T | TTTTTTG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(96): Show |
a0001a0002a0005others(1): Show | a0001c0010a0002c0002a0002c0003others(2): Show | a0001c0010t0002a0002c0002t0002a0002c0002t0012others(9): Show | a0001c0010t0002g0355 a0002c0002t0002g0009 a0002c0002t0002g0010 others(96): Show |
99 | 382 | 0.2592 | 6 | c.196 others(25): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50990344 | T | TTTATTA | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00733.hp1 others(27): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0012others(3): Show | a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 others(27): Show |
30 | 177 | 0.1695 | 6 | c.209 others(25): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |