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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA3_chr4_78546770_78615447 | 78578298 | C | CGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0014others(18): Show | 24 | 330 | 0.0727 | 18 | c.104 others(33): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA3_chr4_78546770_78615447 | 78578298 | C | CGAGAGCG others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 330 | 0.0030 | 18 | c.104 others(33): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA3_chr4_78546770_78615447 | 78578298 | C | CGAGAGTG others(11): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18612.hp1 NA18961.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0003a0005c0009t0001 | a0001c0001t0001g0133a0001c0001t0001g0196a0001c0001t0003g0018others(4): Show | 7 | 330 | 0.0212 | 18 | c.104 others(33): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69785551 | T | TTGATGAT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00673.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0139a0001c0001t0002g0271a0001c0001t0003g0152others(23): Show | 26 | 346 | 0.0751 | 18 | c.10- others(33): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69829591 | C | CTGCCACG others(11): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0019 | 1 | 346 | 0.0029 | 18 | c.*40 others(29): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 2480 | chr2 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151140594 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0092 | 1 | 408 | 0.0025 | 18 | c.19- others(31): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151154295 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0131 | 1 | 408 | 0.0025 | 18 | c.-26 others(35): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73377930 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0123 | 1 | 264 | 0.0038 | 18 | c.127 others(35): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 12/12 | chr10 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73387519 | C | CAAAACAA others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(81): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0006 | a0001c0002t0002a0001c0002t0008a0001c0007t0007others(1): Show | a0001c0002t0002g0007a0001c0002t0002g0008a0001c0002t0002g0009others(74): Show | 84 | 264 | 0.3182 | 18 | c.633 others(33): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 7/12 | chr10 | TogoVar | ||||||
ANXA8_chr10_47462993_47489115 | 47486972 | C | CAAAACAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG01943.hp1 HG01952.hp2 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0001a0003c0006t0002 | a0003c0006t0001g0065a0003c0006t0002g0016 | 5 | 412 | 0.0121 | 18 | c.-30 others(29): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 2858 | chr10 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517156 | G | GTCTTTTT others(11): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02148.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0001 | a0001c0003t0001g0285a0002c0004t0001g0205 | 2 | 306 | 0.0065 | 18 | c.160 others(37): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517210 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0299 | 1 | 306 | 0.0033 | 18 | c.160 others(37): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517212 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0029 | 1 | 306 | 0.0033 | 18 | c.160 others(37): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517214 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01358.hp2 HG02056.hp1 others(12): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0058others(12): Show | 15 | 306 | 0.0490 | 18 | c.160 others(37): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36678550 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0222 | 1 | 306 | 0.0033 | 18 | c.224 others(35): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36678600 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 NA20752.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180a0002c0002t0001g0235 | 2 | 306 | 0.0065 | 18 | c.224 others(35): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AOC1_chr7_150847517_150866504 | 150853661 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 | 1 | 420 | 0.0024 | 18 | c.-17 others(35): Show |
AOC1 | ENSG00000002726.21 | transcript | ENST00000360937.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AOC2_chr17_42839580_42855707 | 42848524 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 290 | 0.0035 | 18 | c.158 others(35): Show |
AOC2 | ENSG00000131480.9 | transcript | ENST00000253799.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AOC3_chr17_42846199_42863124 | 42848524 | A | AATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0014 | a0014c0018 | a0014c0018t0018 | a0014c0018t0018g0023 | 1 | 284 | 0.0035 | 18 | c.-28 others(29): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 2674 | chr17 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94765439 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 182 | 0.0055 | 18 | c.797 others(35): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94824588 | G | GTGTGTTA others(11): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0099 | 1 | 182 | 0.0055 | 18 | c.136 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94847127 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053a0001c0001t0001g0065a0001c0001t0001g0078others(10): Show | 13 | 182 | 0.0714 | 18 | c.136 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94906455 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG02895.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0076a0001c0001t0001g0078others(10): Show | 13 | 182 | 0.0714 | 18 | c.136 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94907569 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0127 | 1 | 182 | 0.0055 | 18 | c.136 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94907581 | T | TGTGTGCA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0002g0049 | 2 | 182 | 0.0110 | 18 | c.136 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95041444 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18977.hp1 |
a0005a0012 | a0005c0005a0012c0013 | a0005c0005t0001a0012c0013t0002 | a0005c0005t0001g0116a0012c0013t0002g0054 | 2 | 182 | 0.0110 | 18 | c.211 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200588726 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(33): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(5): Show | a0001c0001t0001g0221a0001c0001t0001g0224a0001c0001t0001g0225others(33): Show | 36 | 370 | 0.0973 | 18 | c.45+ others(33): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200630210 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0276 | 1 | 370 | 0.0027 | 18 | c.222 others(37): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 370 | 0.0027 | 18 | c.317 others(35): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATATATTT others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp1 |
a0001a0013 | a0001c0001a0013c0021 | a0001c0001t0001a0013c0021t0001 | a0001c0001t0001g0258a0013c0021t0001g0259 | 2 | 370 | 0.0054 | 18 | c.317 others(35): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 320 | 0.0031 | 18 | c.226 others(37): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71809228 | A | AGGGGGGG others(11): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0243 | 1 | 320 | 0.0031 | 18 | c.-47 others(27): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 395 | chr16 | TogoVar | ||||||
AP1G2_chr14_23554567_23572791 | 23567689 | G | GCAGCGGC others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(80): Show |
a0001a0010 | a0001c0001a0010c0009 | a0001c0001t0001a0010c0009t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0025others(15): Show | 83 | 396 | 0.2096 | 18 | c.-6+ others(29): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(11): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0151 | a0001c0001t0151g0227 | 1 | 308 | 0.0033 | 18 | c.546 others(35): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215220 | G | GGGGGGGG others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0020 | 1 | 308 | 0.0033 | 18 | c.546 others(35): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTGT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0052a0001c0001t0040g0058 | 2 | 308 | 0.0065 | 18 | c.*10 others(31): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 NA19056.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0122a0001c0001t0139 | a0001c0001t0008g0228a0001c0001t0122g0274a0001c0001t0139g0275 | 3 | 308 | 0.0097 | 18 | c.*15 others(31): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 394 | 0.0025 | 18 | c.*25 others(29): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0086a0001c0001t0002g0093a0001c0001t0002g0106others(2): Show | 5 | 318 | 0.0157 | 18 | c.427 others(35): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770497 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021a0001c0001t0003g0056 | 2 | 340 | 0.0059 | 18 | c.292 others(35): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780276 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0266 | 1 | 340 | 0.0029 | 18 | c.4-2 others(31): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02040.hp1 HG02630.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0003a0001c0003t0006a0001c0005t0003others(1): Show | a0001c0002t0003g0002a0001c0002t0003g0139a0001c0002t0003g0149others(9): Show | 12 | 268 | 0.0448 | 18 | c.67+ others(33): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 946770 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01255.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0047a0001c0001t0001g0048others(11): Show | 14 | 268 | 0.0522 | 18 | c.68- others(35): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 959530 | G | GAAATGTC others(11): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 268 | 0.0037 | 18 | c.136 others(31): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 998340 | C | CCCCCCGC others(11): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 268 | 0.0037 | 18 | c.195 others(37): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 998347 | C | CCCCCATT others(11): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0110 | 2 | 268 | 0.0075 | 18 | c.195 others(37): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720541 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0297 | 1 | 372 | 0.0027 | 18 | c.278 others(37): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720545 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 372 | 0.0027 | 18 | c.278 others(37): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720545 | T | TTTTATAT others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 372 | 0.0027 | 18 | c.278 others(37): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0004a0001c0005t0002g0189 | 2 | 226 | 0.0089 | 18 | c.787 others(35): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar |