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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP9_chr7_91935862_92115673 | 92050922 | ACGCATAT others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0296 | 1 | 304 | 0.0033 | -10 | c.536 others(29): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 21/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92061584 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02647.hp2 others(1): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0011c0014 | a0001c0001t0001a0002c0003t0002a0011c0014t0002 | a0001c0001t0001g0022 a0002c0003t0002g0212 a0002c0003t0002g0240 others(1): Show |
4 | 41 | 0.0976 | -10 | c.576 others(27): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 23/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92070401 | GTTGTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(147): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0001c0019others(9): Show | a0001c0001t0001a0001c0011t0001a0001c0019t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(147): Show |
150 | 254 | 0.5906 | -10 | c.650 others(27): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 27/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92106418 | AGTAGGGA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0023a0002c0002a0002c0003others(10): Show | a0001c0023t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0001c0023t0001g0131 a0002c0002t0002g0213 a0002c0002t0002g0214 others(94): Show |
97 | 304 | 0.3191 | -10 | c.114 others(29): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 47/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 38988644 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0122 | 1 | 85 | 0.0118 | -10 | c.-27 others(21): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 2631 | chr1 | TogoVar | |||||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0162 | 1 | 17 | 0.0588 | -10 | c.220 others(27): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87674302 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 138 | 0.0072 | -10 | c.*12 others(21): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 557 | chr6 | TogoVar | |||||||
AKIRIN2_chr6_87669860_87707233 | 87676596 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(104): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0236 others(78): Show |
107 | 142 | 0.7535 | -10 | c.530 others(25): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114357514 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01884.hp1 others(9): Show |
a0003a0005 | a0003c0029a0005c0005a0005c0014 | a0003c0029t0032a0005c0005t0008a0005c0014t0008others(1): Show | a0003c0029t0032g0343 a0005c0005t0008g0024 a0005c0005t0008g0340 others(7): Show |
12 | 205 | 0.0585 | -10 | c.273 others(27): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 12/21 | chr9 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114357556 | CATGCATA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG03041.hp1 others(3): Show |
a0003 | a0003c0012 | a0003c0012t0009 | a0003c0012t0009g0016 a0003c0012t0009g0190 a0003c0012t0009g0191 others(2): Show |
6 | 386 | 0.0155 | -10 | c.273 others(27): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 12/21 | chr9 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114381655 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | NA18986.hp2 NA19007.hp1 |
a0009 | a0009c0008 | a0009c0008t0004 | a0009c0008t0004g0174 a0009c0008t0004g0175 |
2 | 29 | 0.0690 | -10 | c.-11 others(27): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 1/21 | chr9 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114388418 | GACTCAAC others(3): Show |
G | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0024 | a0024c0026 | a0024c0026t0001 | a0024c0026t0001g0110 | 1 | 386 | 0.0026 | -10 | c.-68 others(19): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 437 | chr9 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45549000 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02083.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0222 others(1): Show |
5 | 14 | 0.3571 | -10 | c.-21 others(21): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1825 | chr1 | TogoVar | |||||||
AKR1B10_chr7_134522567_134546412 | 134522705 | ATAAATAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 NA18943.hp1 NA18981.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0015 a0002c0003t0001g0006 |
4 | 446 | 0.0090 | -10 | c.-52 others(21): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 4861 | chr7 | TogoVar | |||||||
AKR1B15_chr7_134544110_134584869 | 134561762 | TCACAGCA others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 others(4): Show |
7 | 402 | 0.0174 | -10 | c.-22 others(27): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1B1_chr7_134437356_134464100 | 134461142 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | NA18989.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0025 |
2 | 97 | 0.0206 | -10 | c.-20 others(21): Show |
AKR1B1 | ENSG00000085662.14 | transcript | ENST00000285930.9 | protein_coding | 2043 | chr7 | TogoVar | |||||||
AKR1C2_chr10_4982775_5008857 | 5005414 | GGTTCACA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01070.hp1 others(22): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0001t0039a0001c0001t0048others(1): Show | a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0004g0041 others(6): Show |
25 | 410 | 0.0610 | -10 | c.-15 others(21): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 1558 | chr10 | TogoVar | |||||||
AKR1C3_chr10_5089414_5112686 | 5107753 | AGTGTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(190): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0002c0003t0002a0002c0003t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(56): Show |
193 | 257 | 0.7510 | -10 | c.*25 others(19): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 68 | chr10 | TogoVar | |||||||
AKR1C4_chr10_5191837_5223949 | 5221401 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 60 | 0.0167 | -10 | c.*26 others(21): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2453 | chr10 | TogoVar | |||||||
AKR1D1_chr7_138071459_138123305 | 138085054 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0053 a0001c0002t0026g0054 |
2 | 115 | 0.0174 | -10 | c.94- others(25): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138100088 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0215 | 1 | 17 | 0.0588 | -10 | c.456 others(27): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1E2_chr10_4821207_4853062 | 4849303 | CTTATCAT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG02015.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0012a0002c0002t0014 | a0002c0002t0003g0008 a0002c0002t0003g0015 a0002c0002t0003g0016 others(13): Show |
28 | 356 | 0.0787 | -10 | c.*17 others(21): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1242 | chr10 | TogoVar | |||||||
AKR7A2_chr1_19298965_19317144 | 19316353 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0001c0014others(4): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(32): Show |
77 | 209 | 0.3684 | -10 | c.-42 others(21): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4210 | chr1 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40276345 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027a0001c0001t0028 | a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0110 others(4): Show |
7 | 20 | 0.3500 | -10 | c.-85 others(27): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 1/13 | chr19 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(6): Show | a0001c0001t0001g0077 a0001c0001t0002g0036 a0001c0001t0002g0063 others(12): Show |
15 | 26 | 0.5769 | -10 | c.125 others(31): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527870 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01256.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0034others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0082 others(11): Show |
14 | 240 | 0.0583 | -10 | c.125 others(31): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527928 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0078 others(14): Show |
17 | 299 | 0.0569 | -10 | c.125 others(31): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527930 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 279 | 0.0036 | -10 | c.125 others(31): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243583547 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01934.hp2 NA18943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0214 a0001c0001t0001g0218 others(2): Show |
5 | 300 | 0.0167 | -10 | c.697 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243649313 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01934.hp2 HG01981.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0146 others(16): Show |
19 | 87 | 0.2184 | -10 | c.285 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243669051 | ATTATACT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 others(101): Show |
104 | 300 | 0.3467 | -10 | c.173 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243693242 | TGATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG01106.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0281 a0001c0001t0002g0069 a0001c0001t0002g0155 others(7): Show |
10 | 116 | 0.0862 | -10 | c.172 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243699465 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02258.hp1 HG02293.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0199 a0001c0001t0003g0055 a0001c0001t0003g0056 others(4): Show |
7 | 25 | 0.2800 | -10 | c.47- others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243713746 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0139 | 1 | 66 | 0.0152 | -10 | c.47- others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243767561 | TAATACTT others(3): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 300 | 0.0033 | -10 | c.47- others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243791442 | CCTCAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 300 | 0.0033 | -10 | c.46+ others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243803645 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp1 HG02257.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0104 others(21): Show |
24 | 42 | 0.5714 | -10 | c.46+ others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243853217 | GTTTTTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 55 | 0.0182 | -10 | c.-33 others(21): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2975 | chr1 | TogoVar | |||||||
AKTIP_chr16_53486040_53508209 | 53487589 | TAGAAGAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 384 | 0.0026 | -10 | c.*48 others(21): Show |
AKTIP | ENSG00000166971.17 | transcript | ENST00000394657.12 | protein_coding | 3450 | chr16 | TogoVar | |||||||
AKTIP_chr16_53486040_53508209 | 53503258 | CGCCCTGC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02896.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0042 |
4 | 41 | 0.0976 | -10 | c.-19 others(19): Show |
AKTIP | ENSG00000166971.17 | transcript | ENST00000394657.12 | protein_coding | 50 | chr16 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113403517 | GAAAAAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02602.hp2 HG04115.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0008t0005 | a0001c0001t0005g0220 a0001c0008t0005g0055 |
2 | 215 | 0.0093 | -10 | c.-23 others(21): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2234 | chr9 | TogoVar | |||||||
ALAS1_chr3_52193160_52219327 | 52193972 | GAAAAGAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 352 | 0.0028 | -10 | c.-44 others(21): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4187 | chr3 | TogoVar | |||||||
ALAS1_chr3_52193160_52219327 | 52194047 | GAAAGAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 350 | 0.0029 | -10 | c.-44 others(21): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4112 | chr3 | TogoVar | |||||||
ALAS2_chrX_55004055_55035977 | 55015959 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 others(1): Show |
7 | 90 | 0.0778 | -10 | c.100 others(27): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 7/10 | chrX | TogoVar | |||||||
ALCAM_chr3_105361909_105581900 | 105389371 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 74 | 0.0135 | -10 | c.73+ others(27): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105405277 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02738.hp1 NA18963.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 a0001c0001t0001g0357 a0001c0001t0001g0362 |
3 | 42 | 0.0714 | -10 | c.73+ others(27): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105446610 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 39 | 0.0256 | -10 | c.74- others(27): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105454653 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp2 HG02602.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0048 a0001c0001t0001g0103 a0001c0001t0001g0331 others(23): Show |
26 | 67 | 0.3881 | -10 | c.74- others(27): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105563667 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 5 | 0.2000 | -10 | c.166 others(29): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95655124 | TTTCTTTA others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0049 a0001c0001t0001g0265 a0001c0001t0001g0266 others(3): Show |
7 | 370 | 0.0189 | -10 | c.-29 others(27): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 1/17 | chr10 | TogoVar |