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 | 112228873 | AAATT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00673.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0037others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0090 a0001c0001t0003g0001 others(13): Show |
51 | 398 | 0.1281 | -4 | c.-32 others(15): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 2913 | chr4 | TogoVar | |||||||
AP1AR_chr4_112226787_112278110 | 112241249 | TAGTC | T | intron_variant | MODIFIER | HG01975.hp2 HG02486.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0030 | a0001c0002t0001g0024 a0001c0002t0001g0138 a0001c0002t0030g0137 |
5 | 398 | 0.0126 | -4 | c.83+ others(19): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29357062 | GTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(171): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(160): Show |
174 | 378 | 0.4603 | -4 | c.526 others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 5/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29366833 | GACAC | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp2 others(86): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(80): Show |
89 | 378 | 0.2355 | -4 | c.37+ others(17): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29375349 | CAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 others(5): Show |
8 | 378 | 0.0212 | -4 | c.-27 others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29392378 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01978.hp2 HG02027.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0021 | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0046 others(22): Show |
25 | 378 | 0.0661 | -4 | c.-39 others(15): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 3809 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736117 | AATAT | A | intron_variant | MODIFIER | HG00642.hp2 HG02071.hp2 HG02074.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0003g0255 a0001c0001t0004g0300 a0001c0001t0015g0035 others(11): Show |
14 | 320 | 0.0438 | -4 | c.226 others(23): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736551 | ATTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00609.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0232 a0001c0001t0002g0250 a0001c0001t0002g0253 others(96): Show |
99 | 320 | 0.3094 | -4 | c.226 others(23): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71754340 | AAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00733.hp1 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(8): Show | a0001c0001t0005g0043 a0001c0001t0005g0050 a0001c0001t0005g0051 others(42): Show |
46 | 320 | 0.1438 | -4 | c.123 others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71762840 | CCTGA | C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00735.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0024others(3): Show | a0001c0001t0007g0066 a0001c0001t0007g0071 a0001c0001t0007g0072 others(23): Show |
27 | 320 | 0.0844 | -4 | c.919 others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 9/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71787318 | CAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01175.hp1 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0233 a0001c0001t0002g0264 a0001c0001t0002g0265 others(22): Show |
25 | 320 | 0.0781 | -4 | c.201 others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | |||||||
AP1G2_chr14_23554567_23572791 | 23560778 | CAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0002t0001g0006 |
16 | 396 | 0.0404 | -4 | c.199 others(21): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 19/21 | chr14 | TogoVar | |||||||
AP1G2_chr14_23554567_23572791 | 23562756 | AAGAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 others(10): Show |
74 | 396 | 0.1869 | -4 | c.141 others(21): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 14/21 | chr14 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16240270 | GTGTA | G | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0118a0001c0001t0120a0001c0001t0153 | a0001c0001t0118g0282 a0001c0001t0120g0270 a0001c0001t0153g0033 |
3 | 308 | 0.0097 | -4 | c.*58 others(15): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16250288 | GTGTA | G | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0126a0001c0001t0127a0001c0001t0150 | a0001c0001t0126g0014 a0001c0001t0127g0012 a0001c0001t0150g0015 |
3 | 308 | 0.0097 | -4 | c.*15 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4383 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570547 | CAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0327 others(10): Show |
14 | 394 | 0.0355 | -4 | c.*25 others(15): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10577423 | CTTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01346.hp2 HG02055.hp1 others(16): Show |
a0001a0006 | a0001c0002a0006c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0117 a0001c0002t0002g0082 a0001c0002t0002g0104 others(15): Show |
19 | 394 | 0.0482 | -4 | c.889 others(17): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10578489 | AAACG | A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(171): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0012a0002c0010others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0018 a0001c0002t0001g0083 a0001c0002t0001g0084 others(140): Show |
174 | 394 | 0.4416 | -4 | c.888 others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585259 | AGAAG | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG02080.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0266 a0001c0002t0001g0083 a0001c0002t0001g0117 others(14): Show |
18 | 394 | 0.0457 | -4 | c.43- others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585279 | GAAAA | G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0305 a0001c0001t0001g0306 others(25): Show |
31 | 394 | 0.0787 | -4 | c.43- others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15824736 | CATAA | C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 318 | 0.0031 | -4 | c.*25 others(15): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 1069 | chrX | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15830187 | CACAA | C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 318 | 0.0031 | -4 | c.427 others(21): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | AATAT | A | intron_variant | MODIFIER | HG00597.hp2 HG02258.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0102 a0001c0001t0002g0119 others(1): Show |
5 | 318 | 0.0157 | -4 | c.427 others(21): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15848931 | GTATT | G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 318 | 0.0031 | -4 | c.180 others(21): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223756486 | AAAAG | A | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0024others(3): Show | a0001c0001t0006g0023 a0001c0001t0006g0026 a0001c0001t0006g0072 others(21): Show |
24 | 340 | 0.0706 | -4 | c.*22 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2225 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223763916 | CTTAT | C | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0040 a0001c0001t0009g0166 a0001c0001t0009g0167 others(4): Show |
7 | 340 | 0.0206 | -4 | c.429 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223774372 | TAATA | T | intron_variant | MODIFIER | HG00738.hp1 HG01981.hp2 HG01993.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0029 others(11): Show |
14 | 340 | 0.0412 | -4 | c.291 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223778116 | TTTTG | T | intron_variant | MODIFIER | HG00673.hp1 HG01261.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 a0001c0001t0006g0078 a0001c0001t0006g0286 others(1): Show |
4 | 340 | 0.0118 | -4 | c.4-2 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780276 | AATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01168.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0247 others(12): Show |
15 | 340 | 0.0441 | -4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780306 | TATAG | T | intron_variant | MODIFIER | HG03710.hp1 NA18906.hp2 NA18998.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015 | a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0110 others(3): Show |
6 | 340 | 0.0177 | -4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780308 | TAGAG | T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01123.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0057 a0001c0001t0003g0031 a0001c0001t0004g0108 others(8): Show |
11 | 340 | 0.0324 | -4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223793049 | CCATT | C | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG01168.hp1 others(50): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0144 others(50): Show |
53 | 340 | 0.1559 | -4 | c.4-1 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223799208 | GACAC | G | intron_variant | MODIFIER | HG00423.hp1 HG01891.hp2 HG01981.hp1 others(38): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0222 others(38): Show |
41 | 340 | 0.1206 | -4 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223799917 | CAATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(137): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0043 others(136): Show |
140 | 340 | 0.4118 | -4 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223806277 | ATTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(68): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0119 others(67): Show |
71 | 340 | 0.2088 | -4 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832129 | TTCTC | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0327 a0001c0001t0002g0035 a0001c0001t0002g0041 others(10): Show |
13 | 340 | 0.0382 | -4 | c.3+5 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832135 | CTGTG | C | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0047 | a0001c0001t0001g0282 a0001c0001t0007g0170 a0001c0001t0047g0322 |
3 | 340 | 0.0088 | -4 | c.3+5 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223833882 | TTTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(113): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0119 others(112): Show |
116 | 340 | 0.3412 | -4 | c.3+3 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223838221 | CATTT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01070.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0258 others(37): Show |
40 | 340 | 0.1177 | -4 | c.-77 others(13): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 640 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49769264 | AAAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 others(4): Show |
7 | 342 | 0.0205 | -4 | c.67+ others(19): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49773785 | TCTAA | T | intron_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG02135.hp1 others(22): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0197 others(19): Show |
25 | 342 | 0.0731 | -4 | c.67+ others(19): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 923629 | CATAA | C | upstream_gene_variant | MODIFIER | NA18964.hp2 NA18969.hp1 NA19082.hp1 others(1): Show |
a0001a0017a0021 | a0001c0002a0017c0007a0021c0019 | a0001c0002t0002a0017c0007t0002a0021c0019t0002 | a0001c0002t0002g0244 a0001c0002t0002g0252 a0017c0007t0002g0248 others(1): Show |
4 | 268 | 0.0149 | -4 | c.-23 others(15): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2240 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 933269 | AAAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001a0012 | a0001c0002a0001c0003a0001c0013others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(2): Show | a0001c0002t0002g0226 a0001c0002t0002g0233 a0001c0002t0002g0234 others(17): Show |
20 | 268 | 0.0746 | -4 | c.67+ others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 937697 | AATTT | A | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 a0001c0002t0002g0004 |
2 | 268 | 0.0075 | -4 | c.67+ others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 939951 | CTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(111): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(111): Show |
114 | 268 | 0.4254 | -4 | c.67+ others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 969219 | CCTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01255.hp2 others(14): Show |
a0001a0016a0022 | a0001c0001a0001c0006a0001c0023others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0027 others(14): Show |
17 | 268 | 0.0634 | -4 | c.137 others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 983369 | ATTAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(263): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(263): Show |
266 | 268 | 0.9925 | -4 | c.706 others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583115 | CTTTT | C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01515.hp2 HG01952.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0005g0135 a0001c0001t0005g0138 a0001c0001t0005g0139 others(9): Show |
12 | 372 | 0.0323 | -4 | c.-43 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583512 | TTTTC | T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG02027.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 a0001c0001t0003g0036 a0001c0001t0003g0037 |
3 | 372 | 0.0081 | -4 | c.-39 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3809 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583514 | TTCTC | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01168.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0181 a0001c0001t0003g0007 a0001c0001t0003g0008 others(36): Show |
39 | 372 | 0.1048 | -4 | c.-39 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar |