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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA3_chr4_78546770_78615447 | 78578298 | C | CGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(21): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 others(18): Show |
24 | 138 | 0.1739 | 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 | a0001c0001t0004g0086 | 1 | 115 | 0.0087 | 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 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0003a0008c0009t0001 | a0001c0001t0001g0133 a0001c0001t0001g0190 a0001c0001t0003g0018 others(4): Show |
7 | 121 | 0.0579 | 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 | a0001c0001t0001g0137 a0001c0001t0002g0267 a0001c0001t0003g0177 others(23): Show |
26 | 187 | 0.1390 | 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 | a0001c0001t0018g0024 | 1 | 344 | 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 | 347 | 0.0029 | 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 | 13 | 0.0769 | 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 | a0001c0002t0002g0122 | 1 | 179 | 0.0056 | 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 | a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0009 others(73): Show |
84 | 247 | 0.3401 | 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 | a0003c0006t0001g0064 a0003c0006t0002g0016 |
5 | 280 | 0.0179 | 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 | a0001c0003t0001g0285 a0002c0004t0001g0204 |
2 | 225 | 0.0089 | 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 | 303 | 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 | 302 | 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 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0058 others(12): Show |
15 | 130 | 0.1154 | 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 | a0002c0004t0001g0221 | 1 | 52 | 0.0192 | 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 | a0002c0002t0001g0180 a0002c0002t0001g0235 |
2 | 102 | 0.0196 | 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 | 26 | 0.0385 | 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 | a0001c0001t0003g0029 | 1 | 249 | 0.0040 | 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 | a0013 | a0013c0018 | a0013c0018t0018 | a0013c0018t0018g0023 | 1 | 238 | 0.0042 | 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 | 41 | 0.0244 | 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 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0099 | 1 | 180 | 0.0056 | 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 | a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0079 others(10): Show |
13 | 41 | 0.3171 | 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 | a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0079 others(10): Show |
13 | 62 | 0.2097 | 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 | 180 | 0.0056 | 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 | a0001c0001t0001g0037 a0001c0001t0002g0050 |
2 | 180 | 0.0111 | 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 |
a0005a0011 | a0005c0005a0011c0013 | a0005c0005t0001a0011c0013t0002 | a0005c0005t0001g0116 a0011c0013t0002g0054 |
2 | 48 | 0.0417 | 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 | a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 others(33): Show |
36 | 117 | 0.3077 | 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 | a0003c0003t0004g0274 | 1 | 101 | 0.0099 | 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 | a0001c0001t0001g0255 | 1 | 88 | 0.0114 | 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 |
a0001a0012 | a0001c0001a0012c0021 | a0001c0001t0001a0012c0021t0001 | a0001c0001t0001g0256 a0012c0021t0001g0257 |
2 | 89 | 0.0225 | 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 | a0001c0001t0002g0266 | 1 | 212 | 0.0047 | 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 | 305 | 0.0033 | 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(79): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(14): Show |
82 | 394 | 0.2081 | 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 | a0001c0001t0129 | a0001c0001t0129g0217 | 1 | 246 | 0.0041 | 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 | a0001c0001t0032 | a0001c0001t0032g0027 | 1 | 293 | 0.0034 | 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 | a0001c0001t0043 | a0001c0001t0043g0009 a0001c0001t0043g0059 |
2 | 50 | 0.0400 | 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 | a0001c0001t0008a0001c0001t0108a0001c0001t0120 | a0001c0001t0008g0218 a0001c0001t0108g0264 a0001c0001t0120g0265 |
3 | 92 | 0.0326 | 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 | a0001c0002t0002g0155 | 1 | 9 | 0.1111 | 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 | a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0079 others(2): Show |
5 | 186 | 0.0269 | 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 | a0001c0001t0003g0021 a0001c0001t0003g0056 |
2 | 13 | 0.1538 | 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 | a0001c0001t0005g0264 | 1 | 245 | 0.0041 | 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 |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0003a0001c0003t0006a0001c0005t0003others(1): Show | a0001c0002t0003g0003 a0001c0002t0003g0143 a0001c0002t0003g0153 others(9): Show |
12 | 13 | 0.9231 | 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 | a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0049 others(11): Show |
14 | 142 | 0.0986 | 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 | a0001c0001t0001g0124 | 1 | 266 | 0.0038 | 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 | a0001c0001t0001g0078 | 1 | 266 | 0.0038 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0111 |
2 | 266 | 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 | a0001c0002t0001g0295 | 1 | 367 | 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 | a0001c0001t0003g0031 | 1 | 282 | 0.0035 | 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 | a0001c0002t0001g0294 | 1 | 282 | 0.0035 | 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 | a0001c0005t0002g0004 a0001c0005t0002g0189 |
2 | 169 | 0.0118 | 18 | c.787 others(35): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar |