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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP9_chr7_91935862_92115673 | 92050922 | ACGCATAT others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0296 | 1 | 306 | 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 |
a0001a0003a0028 | a0001c0001a0003c0003a0028c0014 | a0001c0001t0001a0003c0003t0002a0028c0014t0002 | a0001c0001t0001g0055a0003c0003t0002g0212a0003c0003t0002g0240others(1): Show | 4 | 306 | 0.0131 | -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 |
a0001a0002a0007others(6): Show | a0001c0001a0001c0011a0001c0018others(9): Show | a0001c0001t0001a0001c0011t0001a0001c0018t0001others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(147): Show | 150 | 306 | 0.4902 | -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(9): Show | a0001c0022a0002c0002a0002c0033others(10): Show | a0001c0022t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0001c0022t0001g0126a0002c0002t0002g0213a0002c0002t0002g0214others(94): Show | 97 | 306 | 0.3170 | -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 | 426 | 0.0024 | -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 | 426 | 0.0024 | -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 | a0001c0001t0003g0251 | 1 | 406 | 0.0025 | -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 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0243others(79): Show | 107 | 406 | 0.2636 | -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 | a0003c0029t0033a0005c0005t0008a0005c0014t0008others(1): Show | a0003c0029t0033g0343a0005c0005t0008g0024a0005c0005t0008g0340others(7): Show | 12 | 388 | 0.0309 | -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 | a0003c0012t0009g0016a0003c0012t0009g0190a0003c0012t0009g0191others(2): Show | 6 | 388 | 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 |
a0010 | a0010c0008 | a0010c0008t0004 | a0010c0008t0004g0174a0010c0008t0004g0175 | 2 | 388 | 0.0052 | -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 | 388 | 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 | a0001c0001t0001g0179a0001c0001t0001g0183a0001c0001t0001g0217others(1): Show | 5 | 352 | 0.0142 | -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 | a0001c0001t0001g0004a0001c0001t0001g0106a0002c0003t0001g0006 | 4 | 448 | 0.0089 | -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 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0234others(4): Show | 7 | 404 | 0.0173 | -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 | a0001c0001t0001g0012a0001c0001t0001g0025 | 2 | 446 | 0.0045 | -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 | a0001c0001t0004g0007a0001c0001t0004g0012a0001c0001t0004g0041others(6): Show | 25 | 412 | 0.0607 | -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 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(56): Show | 193 | 438 | 0.4406 | -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 | 434 | 0.0023 | -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 | a0001c0002t0026g0048a0001c0002t0026g0049 | 2 | 426 | 0.0047 | -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 | a0001c0001t0058g0223 | 1 | 426 | 0.0024 | -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 | a0002c0002t0003g0008a0002c0002t0003g0015a0002c0002t0003g0016others(13): Show | 28 | 358 | 0.0782 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(32): Show | 77 | 460 | 0.1674 | -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 | a0001c0001t0002g0023a0001c0001t0002g0028a0001c0001t0002g0110others(4): Show | 7 | 360 | 0.0194 | -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 | a0001c0001t0001g0077a0001c0001t0002g0036a0001c0001t0002g0063others(12): Show | 15 | 301 | 0.0498 | -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 | a0001c0001t0001g0042a0001c0001t0001g0048a0001c0001t0001g0082others(11): Show | 14 | 301 | 0.0465 | -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 | a0001c0001t0001g0039a0001c0001t0001g0077a0001c0001t0001g0078others(14): Show | 17 | 301 | 0.0565 | -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 | 301 | 0.0033 | -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 | a0001c0001t0001g0146a0001c0001t0001g0217a0001c0001t0001g0221others(2): Show | 5 | 301 | 0.0166 | -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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0146others(16): Show | 19 | 301 | 0.0631 | -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(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0137a0001c0001t0001g0140a0001c0001t0001g0141others(102): Show | 105 | 301 | 0.3488 | -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 | a0001c0001t0001g0281a0001c0001t0002g0069a0001c0001t0002g0155others(7): Show | 10 | 301 | 0.0332 | -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 | a0001c0001t0002g0199a0001c0001t0003g0055a0001c0001t0003g0056others(4): Show | 7 | 301 | 0.0233 | -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 | 301 | 0.0033 | -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 | 301 | 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 | 301 | 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 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0104others(21): Show | 24 | 301 | 0.0797 | -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 | a0001c0001t0001g0226 | 1 | 301 | 0.0033 | -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 | a0001c0001t0002g0031 | 1 | 386 | 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 | a0001c0001t0001g0010a0001c0001t0001g0042a0001c0001t0001g0043 | 4 | 386 | 0.0104 | -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 | a0001c0001t0005g0220a0001c0008t0005g0055 | 2 | 446 | 0.0045 | -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 | 354 | 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 | 354 | 0.0028 | -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 | a0001c0001t0001g0021a0001c0001t0001g0032a0001c0001t0001g0064others(1): Show | 7 | 284 | 0.0247 | -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 | a0001c0001t0004g0279 | 1 | 378 | 0.0027 | -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 | a0001c0001t0001g0349a0001c0001t0001g0353a0001c0001t0001g0358 | 3 | 378 | 0.0079 | -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 | a0001c0001t0001g0269 | 1 | 378 | 0.0027 | -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 | a0001c0001t0001g0043a0001c0001t0001g0103a0001c0001t0001g0331others(23): Show | 26 | 378 | 0.0688 | -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 | a0001c0001t0004g0156 | 1 | 378 | 0.0027 | -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 | a0001c0001t0001g0049a0001c0001t0001g0264a0001c0001t0001g0265others(3): Show | 7 | 372 | 0.0188 | -10 | c.-29 others(27): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 1/17 | chr10 | TogoVar |