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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA4_chr2_69737134_69832112 | 69794522 | A | ATTATG | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00673.hp1 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0045 others(51): Show |
54 | 147 | 0.3673 | 5 | c.97+ others(20): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA5_chr4_121662946_121701980 | 121674182 | A | AGGGAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 others(30): Show |
73 | 336 | 0.2173 | 5 | c.532 others(22): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151133028 | G | GAAAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(102): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0058 others(97): Show |
105 | 406 | 0.2586 | 5 | c.640 others(18): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 9/25 | chr5 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73401263 | A | ACACAC | intron_variant | MODIFIER | HG00423.hp2 NA18999.hp1 NA19054.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 a0001c0002t0002g0085 a0001c0002t0002g0087 |
4 | 155 | 0.0258 | 5 | c.-1- others(18): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73401263 | A | ACATAC | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01884.hp2 others(13): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0003a0001c0001t0005a0005c0006t0006 | a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(13): Show |
16 | 167 | 0.0958 | 5 | c.-1- others(18): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73416109 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0003g0022 others(10): Show |
13 | 57 | 0.2281 | 5 | c.-21 others(16): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 2052 | chr10 | TogoVar | |||||||
ANXA8_chr10_47462993_47489115 | 47476471 | G | GCTTGT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00558.hp1 others(140): Show |
a0001a0002a0003others(4): Show | a0001c0009a0001c0014a0002c0002others(11): Show | a0001c0009t0001a0001c0014t0007a0001c0014t0009others(17): Show | a0001c0009t0001g0050 a0001c0009t0001g0061 a0001c0009t0001g0175 others(54): Show |
143 | 410 | 0.3488 | 5 | c.322 others(20): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 4/11 | chr10 | TogoVar | |||||||
ANXA8_chr10_47462993_47489115 | 47488713 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02896.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(2): Show |
7 | 186 | 0.0376 | 5 | c.-47 others(16): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 4599 | chr10 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36523629 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG02129.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0012t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0039 others(8): Show |
11 | 30 | 0.3667 | 5 | c.152 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36543947 | C | CTTTCT | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02257.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0065 others(18): Show |
21 | 38 | 0.5526 | 5 | c.113 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 15/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36688782 | T | TTTAAG | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02922.hp1 others(3): Show |
a0001a0014 | a0001c0003a0014c0025 | a0001c0003t0001a0001c0003t0008a0014c0025t0010 | a0001c0003t0001g0251 a0001c0003t0001g0253 a0001c0003t0001g0254 others(3): Show |
6 | 304 | 0.0197 | 5 | c.128 others(22): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AOC1_chr7_150847517_150866504 | 150859702 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(24): Show |
a0002a0004a0006others(1): Show | a0002c0001a0002c0009a0002c0016others(3): Show | a0002c0001t0001a0002c0009t0001a0002c0016t0001others(3): Show | a0002c0001t0001g0005 a0002c0001t0001g0017 a0002c0001t0001g0052 others(10): Show |
27 | 225 | 0.1200 | 5 | c.185 others(22): Show |
AOC1 | ENSG00000002726.21 | transcript | ENST00000360937.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94784924 | A | ATATTT | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0067 a0001c0001t0002g0066 |
2 | 180 | 0.0111 | 5 | c.965 others(22): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94819946 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01255.hp2 others(33): Show |
a0001a0012 | a0001c0001a0001c0015a0012c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0053 others(33): Show |
36 | 85 | 0.4235 | 5 | c.136 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94821970 | A | ACACAC | intron_variant | MODIFIER | HG01109.hp2 HG01256.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084 a0001c0001t0002g0050 a0001c0001t0002g0078 |
3 | 54 | 0.0556 | 5 | c.136 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | chr9 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94934315 | C | CTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02723.hp2 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0120 a0001c0001t0001g0152 others(14): Show |
17 | 127 | 0.1339 | 5 | c.166 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94961013 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02976.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0008a0005c0005others(1): Show | a0001c0001t0002a0002c0008t0002a0005c0005t0001others(1): Show | a0001c0001t0002g0025 a0001c0001t0002g0169 a0002c0008t0002g0135 others(2): Show |
5 | 91 | 0.0549 | 5 | c.187 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94962730 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG02258.hp1 HG03516.hp1 others(2): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0011 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0120 a0001c0001t0002g0068 a0003c0003t0001g0179 others(2): Show |
5 | 136 | 0.0368 | 5 | c.187 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94975483 | A | ACTAAC | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00741.hp2 others(20): Show |
a0001a0003a0011 | a0001c0001a0001c0014a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0065 others(20): Show |
23 | 180 | 0.1278 | 5 | c.191 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94982564 | A | AATTTT | intron_variant | MODIFIER | HG02145.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0120 a0001c0016t0001g0110 |
2 | 167 | 0.0120 | 5 | c.197 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | chr9 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 95009295 | T | TATAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(165): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0014a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(165): Show |
168 | 180 | 0.9333 | 5 | c.211 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200601073 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0004 | a0001c0001t0001g0194 a0001c0001t0001g0232 a0001c0001t0001g0233 others(8): Show |
11 | 98 | 0.1122 | 5 | c.437 others(22): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200617666 | C | CCATTA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(108): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0021 others(108): Show |
111 | 368 | 0.3016 | 5 | c.170 others(24): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(11): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0007 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(2): Show | a0001c0001t0001g0124 a0001c0001t0001g0196 a0001c0001t0001g0239 others(11): Show |
14 | 101 | 0.1386 | 5 | c.317 others(22): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200663596 | T | TCTCCC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01167.hp1 others(14): Show |
a0001a0005 | a0001c0001a0001c0019a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0019t0002others(1): Show | a0001c0001t0001g0236 a0001c0001t0001g0356 a0001c0001t0002g0130 others(14): Show |
17 | 240 | 0.0708 | 5 | c.354 others(22): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29378136 | A | AGGGCC | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0013 | a0001c0004t0002g0349 a0001c0004t0002g0350 a0001c0004t0002g0352 others(2): Show |
5 | 376 | 0.0133 | 5 | c.-28 others(24): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71757401 | A | AGGTCG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0044 a0001c0001t0002g0194 a0001c0001t0002g0198 others(119): Show |
122 | 318 | 0.3836 | 5 | c.108 others(24): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 11/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0009g0065 a0001c0001t0009g0086 a0002c0002t0001g0153 others(10): Show |
13 | 69 | 0.1884 | 5 | c.-3- others(20): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01978.hp2 HG02040.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0216 others(4): Show |
7 | 15 | 0.4667 | 5 | c.*25 others(16): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10571167 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(91): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 others(80): Show |
94 | 173 | 0.5434 | 5 | c.*18 others(16): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1503 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATA | intron_variant | MODIFIER | HG01346.hp1 HG02523.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0125 others(1): Show |
4 | 257 | 0.0156 | 5 | c.427 others(22): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223756338 | G | GAAAGA | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0036 | a0001c0001t0009g0039 a0001c0001t0009g0166 a0001c0001t0009g0167 others(10): Show |
13 | 313 | 0.0415 | 5 | c.*23 others(16): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2376 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770727 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(103): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(103): Show |
106 | 150 | 0.7067 | 5 | c.291 others(22): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTTT | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp1 HG02630.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0257 a0001c0001t0002g0309 a0001c0001t0003g0018 others(10): Show |
13 | 145 | 0.0897 | 5 | c.3+2 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223817607 | C | CAAAAA | intron_variant | MODIFIER | HG02451.hp2 HG02523.hp2 NA19030.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0179 a0001c0001t0003g0018 a0001c0001t0005g0088 others(3): Show |
6 | 221 | 0.0271 | 5 | c.3+1 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223826595 | A | AAACAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(183): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0043 others(182): Show |
186 | 338 | 0.5503 | 5 | c.3+1 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49777076 | G | GAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG04199.hp2 NA18955.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0068 a0001c0001t0001g0187 a0001c0001t0001g0189 others(4): Show |
7 | 270 | 0.0259 | 5 | c.68- others(20): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG01516.hp2 HG02738.hp1 others(3): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0002a0001c0002t0003a0001c0015t0003 | a0001c0002t0002g0133 a0001c0002t0002g0159 a0001c0002t0002g0160 others(3): Show |
6 | 7 | 0.8571 | 5 | c.67+ others(20): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 974698 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(105): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(105): Show |
108 | 256 | 0.4219 | 5 | c.474 others(22): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35614655 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(1): Show | a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 others(41): Show |
44 | 170 | 0.2588 | 5 | c.525 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATA | intron_variant | MODIFIER | HG00280.hp2 NA19001.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0119 a0001c0001t0002g0171 a0001c0001t0003g0029 |
3 | 348 | 0.0086 | 5 | c.278 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46833427 | A | AAAGAG | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01433.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0020 a0001c0001t0002g0247 a0001c0001t0002g0248 others(4): Show |
9 | 191 | 0.0471 | 5 | c.*50 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46855092 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02027.hp1 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0056 others(7): Show |
10 | 117 | 0.0855 | 5 | c.-43 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78010860 | T | TGTATA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0007a0003c0008others(1): Show | a0001c0001t0002a0003c0007t0002a0003c0008t0002others(1): Show | a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 others(12): Show |
15 | 224 | 0.0670 | 5 | c.313 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78023439 | C | CAAGAA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00735.hp1 others(45): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0225 a0001c0001t0002g0097 a0001c0001t0002g0112 others(45): Show |
48 | 181 | 0.2652 | 5 | c.289 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78053697 | A | AGAAAG | intron_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG01346.hp1 others(31): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0002g0012 others(31): Show |
34 | 152 | 0.2237 | 5 | c.257 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78134149 | C | CAAAAA | intron_variant | MODIFIER | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(8): Show |
a0001a0007 | a0001c0004a0001c0005a0007c0013 | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(2): Show | a0001c0004t0001g0087 a0001c0004t0002g0085 a0001c0005t0001g0195 others(8): Show |
11 | 126 | 0.0873 | 5 | c.165 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78189869 | C | CAAATA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(28): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0083 a0001c0001t0001g0107 a0001c0001t0001g0127 others(28): Show |
31 | 101 | 0.3069 | 5 | c.787 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78191354 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(3): Show |
a0001a0007 | a0001c0005a0007c0013 | a0001c0005t0002a0007c0013t0002 | a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0189 others(3): Show |
6 | 102 | 0.0588 | 5 | c.787 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82682047 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0005 | a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 others(13): Show |
16 | 116 | 0.1379 | 5 | c.361 others(20): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar |