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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOX1_chr2_200581014_200676495 | 200657190 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0246 | 1 | 88 | 0.0114 | 13 | c.317 others(30): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29370466 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0036 | 1 | 361 | 0.0028 | 13 | c.-27 others(30): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736098 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01258.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0002g0215 others(16): Show |
19 | 231 | 0.0823 | 13 | c.226 others(32): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0308 a0001c0001t0011g0256 |
2 | 213 | 0.0094 | 13 | c.226 others(32): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 a0001c0001t0002g0294 |
2 | 213 | 0.0094 | 13 | c.226 others(32): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71768500 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 33 | 0.0303 | 13 | c.642 others(30): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0184 | 1 | 57 | 0.0175 | 13 | c.-3- others(28): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02602.hp2 NA18984.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0005a0002c0002t0001a0004c0006t0001 | a0001c0001t0005g0050 a0002c0002t0001g0167 a0004c0006t0001g0132 |
3 | 59 | 0.0508 | 13 | c.-3- others(28): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0038 | a0001c0001t0033g0222 a0001c0001t0038g0224 |
2 | 247 | 0.0081 | 13 | c.546 others(30): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215216 | G | GGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0223 | 1 | 300 | 0.0033 | 13 | c.546 others(30): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01975.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0253 a0001c0002t0002g0001 a0001c0002t0002g0010 others(3): Show |
7 | 15 | 0.4667 | 13 | c.*25 others(24): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 182 | 0.0055 | 13 | c.427 others(30): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02083.hp1 HG02683.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0114 others(2): Show |
9 | 262 | 0.0344 | 13 | c.427 others(30): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223756453 | G | GAAAGAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(114): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(114): Show |
117 | 338 | 0.3462 | 13 | c.*22 others(24): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2261 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780397 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 336 | 0.0030 | 13 | c.4-2 others(26): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02083.hp2 HG02132.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0213 a0001c0002t0002g0246 a0001c0003t0002g0134 others(3): Show |
6 | 7 | 0.8571 | 13 | c.67+ others(28): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 194 | 0.0052 | 13 | c.278 others(32): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0149 | 1 | 194 | 0.0052 | 13 | c.278 others(32): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 346 | 0.0029 | 13 | c.278 others(32): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46839286 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 84 | 0.0119 | 13 | c.267 others(28): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 111 | 0.0090 | 13 | c.787 others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78223027 | C | CTCTTTTT others(6): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 124 | 0.0081 | 13 | c.603 others(30): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78284374 | G | GGTTATTC others(6): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045 | 1 | 224 | 0.0045 | 13 | c.128 others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82700397 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01975.hp2 NA18612.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0007c0012t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 others(6): Show |
9 | 12 | 0.7500 | 13 | c.113 others(30): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42166591 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00609.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0099 others(10): Show |
27 | 198 | 0.1364 | 13 | c.804 others(28): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115845836 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0228 | 1 | 69 | 0.0145 | 13 | c.69+ others(28): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89858523 | G | GAGAGAGA others(6): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 227 | 0.0044 | 13 | c.345 others(32): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 NA18972.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0003 a0002c0002t0003g0012 |
2 | 118 | 0.0169 | 13 | c.-25 others(24): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | |||||||
AP4M1_chr7_100096643_100114039 | 100099418 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02165.hp2 HG02698.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0020 others(1): Show |
7 | 257 | 0.0272 | 13 | c.-22 others(24): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31049428 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 179 | 0.0056 | 13 | c.-71 others(32): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049428 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 179 | 0.0056 | 13 | c.-71 others(32): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02647.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0327 others(1): Show |
4 | 114 | 0.0351 | 13 | c.306 others(30): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31096689 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0243 | 1 | 344 | 0.0029 | 13 | c.*36 others(24): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 240 | chr14 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3816995 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0010 | 1 | 285 | 0.0035 | 13 | c.-37 others(24): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3551 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 229 | 0.0044 | 13 | c.*73 others(24): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3832236 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 197 | 0.0051 | 13 | c.*79 others(24): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3399 | chr20 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653689 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0033 a0001c0001t0001g0099 a0001c0001t0001g0102 others(4): Show |
7 | 249 | 0.0281 | 13 | c.526 others(30): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0109 |
2 | 120 | 0.0167 | 13 | c.526 others(30): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0196 |
2 | 120 | 0.0167 | 13 | c.526 others(30): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69600806 | T | TAAATAAA others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 others(2): Show |
5 | 178 | 0.0281 | 13 | c.-70 others(32): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658304 | C | CTCTCTTC others(6): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0071 | 1 | 106 | 0.0094 | 13 | c.-70 others(32): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658308 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 145 | 0.0069 | 13 | c.-70 others(32): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp2 others(68): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0005 a0001c0001t0002g0116 a0001c0001t0002g0117 others(68): Show |
71 | 146 | 0.4863 | 13 | c.-40 others(30): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0014 | a0002c0014t0035 | a0002c0014t0035g0191 | 1 | 76 | 0.0132 | 13 | c.-40 others(30): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCTCC others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03540.hp2 |
a0001 | a0001c0007a0001c0013 | a0001c0007t0004a0001c0013t0009 | a0001c0007t0004g0043 a0001c0007t0004g0044 a0001c0013t0009g0127 |
3 | 13 | 0.2308 | 13 | c.951 others(30): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCTTC others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01081.hp2 others(53): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(24): Show | a0002c0002t0001g0020 a0002c0002t0001g0050 a0002c0002t0002g0095 others(53): Show |
56 | 66 | 0.8485 | 13 | c.951 others(30): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29058860 | T | TTGTAGAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0002 | a0002c0004a0002c0016 | a0002c0004t0022a0002c0016t0036 | a0002c0004t0022g0080 a0002c0016t0036g0001 |
2 | 202 | 0.0099 | 13 | c.951 others(30): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01099.hp1 others(27): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0032 others(26): Show |
30 | 55 | 0.5455 | 13 | c.813 others(30): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40857279 | T | TAGGTGCT others(6): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0001 | a0002c0001t0045 | a0002c0001t0045g0040 | 1 | 190 | 0.0053 | 13 | c.153 others(34): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40948890 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0005 | a0002c0005t0001g0100 a0002c0005t0005g0076 |
2 | 7 | 0.2857 | 13 | c.836 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar |