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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO3_chr11_26327130_26668289 | 26564724 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0130 | 1 | 181 | 0.0055 | -18 | c.144 others(37): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 100806524 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01884.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0042 others(14): Show |
17 | 46 | 0.3696 | -18 | c.-14 others(39): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 100919700 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG03130.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0172 |
2 | 226 | 0.0088 | -18 | c.56- others(33): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 100941957 | AATTATTA others(11): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 52 | 0.0192 | -18 | c.298 others(33): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 101103181 | TTTTATAT others(11): Show |
T | intron_variant | MODIFIER | HG04228.hp1 NA18979.hp2 NA19080.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0009 | a0001c0002t0002a0002c0009t0002 | a0001c0002t0002g0009 a0001c0002t0002g0103 a0001c0002t0002g0127 others(1): Show |
4 | 42 | 0.0952 | -18 | c.214 others(37): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 101104611 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG01192.hp1 NA18989.hp2 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0130 a0001c0002t0002g0174 a0001c0002t0002g0216 |
3 | 208 | 0.0144 | -18 | c.214 others(37): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 101104615 | GTATGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 200 | 0.0050 | -18 | c.214 others(37): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO4_chr12_100789776_101133629 | 101104654 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 233 | 0.0043 | -18 | c.214 others(37): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO6_chr12_45211095_45437349 | 45240351 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02451.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0002t0001others(3): Show | a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 others(13): Show |
16 | 46 | 0.3478 | -18 | c.70+ others(35): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANO8_chr19_17318223_17339855 | 17337778 | CCGTGCCT others(11): Show |
C | upstream_gene_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0127 | 1 | 362 | 0.0028 | -18 | c.-31 others(29): Show |
ANO8 | ENSG00000074855.11 | transcript | ENST00000159087.7 | protein_coding | 2924 | chr19 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 415207 | CGTGTGTG others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02451.hp2 others(11): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0003others(3): Show | a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0250 others(11): Show |
14 | 26 | 0.5385 | -18 | c.*31 others(29): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 2730 | chr11 | TogoVar | |||||||
ANP32B_chr9_97978341_98020943 | 97998788 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18990.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0120 |
2 | 236 | 0.0085 | -18 | c.327 others(33): Show |
ANP32B | ENSG00000136938.9 | transcript | ENST00000339399.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ANTKMT_chr16_716146_727590 | 724045 | TGGGGCAG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(194): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0002t0001g0001 others(4): Show |
197 | 390 | 0.5051 | -18 | c.*14 others(29): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 1456 | chr16 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 80015898 | AAGGAAAG others(11): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0042 | 1 | 257 | 0.0039 | -18 | c.945 others(35): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | |||||||
ANXA10_chr4_168087537_168192736 | 168166631 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0218 others(7): Show |
10 | 56 | 0.1786 | -18 | c.480 others(35): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA11_chr10_80145889_80210537 | 80188480 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00738.hp2 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(9): Show | a0001c0001t0002g0245 a0001c0001t0009g0088 a0001c0001t0009g0182 others(41): Show |
50 | 269 | 0.1859 | -18 | c.-57 others(37): Show |
ANXA11 | ENSG00000122359.18 | transcript | ENST00000422982.8 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043805 | TAAAATAT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 259 | 0.0039 | -18 | c.-37 others(29): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3487 | chr5 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43044037 | AATATAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 34 | 181 | 0.1878 | -18 | c.-40 others(29): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3719 | chr5 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349841 | AAGGGAGG others(11): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 326 | 0.0031 | -18 | c.838 others(33): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349871 | GGAAGGCA others(11): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG02976.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0261 others(1): Show |
4 | 328 | 0.0122 | -18 | c.838 others(33): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349957 | CAGGGGAA others(11): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 135 | 0.0148 | -18 | c.838 others(33): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60398783 | CGTGTGTG others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01192.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0104 a0001c0001t0001g0213 a0001c0001t0001g0214 others(7): Show |
10 | 170 | 0.0588 | -18 | c.-87 others(27): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 798 | chr15 | TogoVar | |||||||
ANXA4_chr2_69737134_69832112 | 69757256 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0126 | 1 | 266 | 0.0038 | -18 | c.-47 others(37): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69814782 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02559.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0003c0003t0004 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0003c0003t0004g0103 others(3): Show |
6 | 344 | 0.0174 | -18 | c.535 others(35): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
ANXA5_chr4_121662946_121701980 | 121700166 | CTCTCTCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0112 | 1 | 321 | 0.0031 | -18 | c.-33 others(29): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 3187 | chr4 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151154295 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0047 others(86): Show |
94 | 106 | 0.8868 | -18 | c.-26 others(35): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73373994 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01346.hp1 HG02155.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 a0001c0002t0002g0050 a0001c0002t0002g0051 others(8): Show |
11 | 61 | 0.1803 | -18 | c.*20 others(29): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1106 | chr10 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73390705 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03225.hp1 HG04228.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0038 others(6): Show |
10 | 262 | 0.0382 | -18 | c.436 others(35): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 5/12 | chr10 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36517196 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0293 | 1 | 304 | 0.0033 | -18 | c.160 others(37): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36678550 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0158 |
2 | 53 | 0.0377 | -18 | c.224 others(35): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94743167 | AAAGAAGA others(11): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0134 | 1 | 148 | 0.0068 | -18 | c.-13 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94885348 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02922.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0003a0006c0006t0003 | a0001c0001t0003g0108 a0006c0006t0003g0104 a0006c0006t0003g0106 others(1): Show |
4 | 20 | 0.2000 | -18 | c.136 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29366833 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02647.hp2 others(10): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0003t0011a0001c0004t0002others(1): Show | a0001c0003t0004g0343 a0001c0003t0004g0345 a0001c0003t0004g0346 others(10): Show |
13 | 84 | 0.1548 | -18 | c.37+ others(31): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71739388 | AAGCTTAC others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03098.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0061 a0001c0001t0004g0300 a0001c0001t0018g0314 |
3 | 318 | 0.0094 | -18 | c.200 others(33): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 19/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0168 | 1 | 57 | 0.0175 | -18 | c.-3- others(33): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1G2_chr14_23554567_23572791 | 23564142 | GATGTCAG others(11): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00609.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0055 | 1 | 394 | 0.0025 | -18 | c.978 others(27): Show |
p.Arg others(5): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 11/22 | 1052/2598 | 978/2358 | 326/785 | chr14 | TogoVar | |||
AP1G2_chr14_23554567_23572791 | 23566455 | GAGAAAAT others(11): Show |
G | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 394 | 0.0025 | -18 | c.330 others(31): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 3/21 | chr14 | TogoVar | |||||||
AP1G2_chr14_23554567_23572791 | 23567602 | ACCCCATC others(11): Show |
A | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 391 | 0.0026 | -18 | c.-6+ others(31): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215210 | GGAGAGGG others(11): Show |
G | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0238 | 1 | 294 | 0.0034 | -18 | c.546 others(35): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTTTT others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG04115.hp1 NA18951.hp1 |
a0001 | a0001c0002 | a0001c0002t0046a0001c0002t0057 | a0001c0002t0046g0137 a0001c0002t0057g0117 |
2 | 39 | 0.0513 | -18 | c.*48 others(29): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4827 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16240256 | GTGTGTGT others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01358.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0011others(7): Show | a0001c0001t0006g0016 a0001c0002t0001g0090 a0001c0002t0001g0109 others(13): Show |
17 | 306 | 0.0556 | -18 | c.*58 others(29): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1S3_chr2_223750326_223842582 | 223780302 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG03209.hp2 HG03486.hp2 NA19091.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0002 | a0001c0001t0010g0331 a0002c0002t0002g0291 a0002c0002t0002g0292 |
3 | 317 | 0.0095 | -18 | c.4-2 others(31): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780304 | TATATAGA others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0023 | a0001c0001t0002g0309 a0001c0001t0007g0272 a0001c0001t0023g0042 others(1): Show |
4 | 287 | 0.0139 | -18 | c.4-2 others(31): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780306 | TATAGAGA others(11): Show |
T | intron_variant | MODIFIER | NA18964.hp2 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0317 a0001c0001t0010g0237 |
2 | 284 | 0.0070 | -18 | c.4-2 others(31): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780341 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | NA18953.hp1 NA18975.hp2 NA18984.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010 | a0001c0001t0002g0263 a0001c0001t0007g0289 a0001c0001t0007g0301 others(2): Show |
5 | 331 | 0.0151 | -18 | c.4-2 others(31): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223799208 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(66): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0122 others(65): Show |
69 | 103 | 0.6699 | -18 | c.4-2 others(33): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832131 | CTCTCTGT others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0109 others(7): Show |
10 | 222 | 0.0450 | -18 | c.3+5 others(31): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 993456 | CACCAGCT others(11): Show |
C | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 266 | 0.0038 | -18 | c.155 others(33): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 12/21 | chr11 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583115 | CTTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(118): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0055 a0001c0001t0002g0065 others(118): Show |
121 | 178 | 0.6798 | -18 | c.-43 others(29): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35616142 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG03195.hp1 HG03927.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0135 a0001c0002t0001g0193 a0001c0002t0001g0194 others(4): Show |
7 | 17 | 0.4118 | -18 | c.525 others(35): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |