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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF771_chr16_30402606_30424414 | 30403283 | G | GCTGCTGC others(41): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0008 |
2 | 328 | 0.0061 | 48 | c.-43 others(59): Show |
ZNF771 | ENSG00000179965.12 | transcript | ENST00000319296.10 | protein_coding | 4322 | chr16 | TogoVar | |||||||
ZNF771_chr16_30402606_30424414 | 30403283 | G | GCTGCTGC others(41): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 HG01993.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0142 a0001c0001t0002g0003 a0001c0001t0005g0019 |
3 | 328 | 0.0092 | 48 | c.-43 others(59): Show |
ZNF771 | ENSG00000179965.12 | transcript | ENST00000319296.10 | protein_coding | 4322 | chr16 | TogoVar | |||||||
ZNF771_chr16_30402606_30424414 | 30403283 | G | GCTGCTGC others(41): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0024 others(4): Show |
7 | 328 | 0.0213 | 48 | c.-43 others(59): Show |
ZNF771 | ENSG00000179965.12 | transcript | ENST00000319296.10 | protein_coding | 4322 | chr16 | TogoVar | |||||||
ZNF771_chr16_30402606_30424414 | 30403283 | G | GCTGCTGC others(41): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0183 others(4): Show |
7 | 328 | 0.0213 | 48 | c.-43 others(59): Show |
ZNF771 | ENSG00000179965.12 | transcript | ENST00000319296.10 | protein_coding | 4322 | chr16 | TogoVar | |||||||
ZNF771_chr16_30402606_30424414 | 30403283 | G | GCTGCTGC others(41): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0151 a0001c0001t0002g0003 |
2 | 328 | 0.0061 | 48 | c.-43 others(59): Show |
ZNF771 | ENSG00000179965.12 | transcript | ENST00000319296.10 | protein_coding | 4322 | chr16 | TogoVar | |||||||
ZNF771_chr16_30402606_30424414 | 30403283 | G | GCTGCTGC others(41): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0189 |
2 | 328 | 0.0061 | 48 | c.-43 others(59): Show |
ZNF771 | ENSG00000179965.12 | transcript | ENST00000319296.10 | protein_coding | 4322 | chr16 | TogoVar | |||||||
ZNF771_chr16_30402606_30424414 | 30403283 | G | GCTGCTTC others(41): Show |
upstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 328 | 0.0031 | 48 | c.-43 others(59): Show |
ZNF771 | ENSG00000179965.12 | transcript | ENST00000319296.10 | protein_coding | 4322 | chr16 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56117294 | T | TCTCACAG others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02970.hp1 others(1): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0022a0002c0003t0072a0004c0005t0022 | a0002c0003t0022g0093 a0002c0003t0022g0107 a0002c0003t0072g0094 others(1): Show |
4 | 410 | 0.0098 | 48 | c.-11 others(65): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56117326 | A | AGAGTGGC others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0011a0001c0018others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(99): Show | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 others(296): Show |
321 | 410 | 0.7829 | 48 | c.-11 others(65): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56117326 | A | AGAGTGGC others(41): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 410 | 0.0024 | 48 | c.-11 others(65): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56117336 | G | ATACAACC others(41): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0109 | 1 | 410 | 0.0024 | 48 | c.-11 others(65): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56117358 | C | CGAGGCTT others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02970.hp2 |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0009 a0002c0003t0006g0089 |
3 | 410 | 0.0073 | 48 | c.-11 others(65): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZNF799_chr19_12385016_12406271 | 12386478 | A | AAAGGGGA others(41): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | 48 | c.*39 others(59): Show |
ZNF799 | ENSG00000196466.10 | transcript | ENST00000430385.3 | protein_coding | 3537 | chr19 | TogoVar | |||||||
ZNF799_chr19_12385016_12406271 | 12386478 | A | AAAGGGGA others(41): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 446 | 0.0022 | 48 | c.*39 others(59): Show |
ZNF799 | ENSG00000196466.10 | transcript | ENST00000430385.3 | protein_coding | 3537 | chr19 | TogoVar | |||||||
ZNF804B_chr7_88754700_89343528 | 88854414 | C | CCTTTCTT others(41): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0006 | a0006c0009 | a0006c0009t0020 | a0006c0009t0020g0151 | 1 | 166 | 0.0060 | 48 | c.108 others(67): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF804B_chr7_88754700_89343528 | 88877011 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0083 | 1 | 166 | 0.0060 | 48 | c.108 others(69): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF804B_chr7_88754700_89343528 | 88877011 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 166 | 0.0060 | 48 | c.108 others(69): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZSCAN31_chr6_28319737_28341148 | 28320199 | A | AACAAAAA others(41): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 416 | 0.0024 | 48 | c.*59 others(59): Show |
ZSCAN31 | ENSG00000235109.8 | transcript | ENST00000344279.11 | protein_coding | 4537 | chr6 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45044746 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 234 | 0.0043 | 48 | c.143 others(67): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45044746 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0004 | a0001c0005t0001g0066 a0001c0005t0004g0069 |
2 | 234 | 0.0086 | 48 | c.143 others(67): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45044746 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0065 | 1 | 234 | 0.0043 | 48 | c.143 others(67): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45044836 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 234 | 0.0043 | 48 | c.143 others(67): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
ZSWIM9_chr19_48165680_48202620 | 48187985 | T | TAGACAGA others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 388 | 0.0026 | 48 | c.588 others(65): Show |
ZSWIM9 | ENSG00000185453.13 | transcript | ENST00000614654.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSWIM9_chr19_48165680_48202620 | 48187985 | T | TAGACAGA others(41): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 388 | 0.0026 | 48 | c.588 others(65): Show |
ZSWIM9 | ENSG00000185453.13 | transcript | ENST00000614654.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZWILCH_chr15_66500326_66555130 | 66517430 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 410 | 0.0024 | 48 | c.321 others(65): Show |
ZWILCH | ENSG00000174442.12 | transcript | ENST00000307897.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52776229 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0016 | 1 | 352 | 0.0028 | 48 | c.952 others(65): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52793868 | T | TTCCTTTC others(41): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0214 a0001c0001t0005g0218 a0001c0001t0005g0220 |
3 | 352 | 0.0085 | 48 | c.133 others(67): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52793868 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0221 | 1 | 352 | 0.0028 | 48 | c.133 others(67): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52793868 | T | TTTCTTTC others(41): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 | 1 | 352 | 0.0028 | 48 | c.133 others(67): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44296934 | T | TGGACTTG others(42): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 396 | 0.0025 | 49 | c.*36 others(60): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1796 | chr6 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8732898 | T | TCCGGACG others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 362 | 0.0028 | 49 | c.-41 others(66): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69177971 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 348 | 0.0029 | 49 | c.277 others(68): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69177971 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02074.hp1 HG02280.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 a0002c0002t0001g0063 a0002c0002t0001g0101 others(5): Show |
8 | 348 | 0.0230 | 49 | c.277 others(68): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48411310 | T | TTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG01952.hp2 others(6): Show |
a0001a0005a0006others(5): Show | a0001c0010a0005c0007a0006c0024others(5): Show | a0001c0010t0002a0005c0007t0003a0006c0024t0003others(6): Show | a0001c0010t0002g0074 a0005c0007t0003g0121 a0006c0024t0003g0107 others(6): Show |
9 | 178 | 0.0506 | 49 | c.122 others(68): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94012894 | G | GACCTCCT others(42): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03516.hp2 |
a0003 | a0003c0068a0003c0075 | a0003c0068t0001a0003c0075t0001 | a0003c0068t0001g0108 a0003c0075t0001g0090 |
2 | 306 | 0.0065 | 49 | c.546 others(68): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0322 | 1 | 350 | 0.0029 | 49 | c.931 others(64): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0321 a0001c0004t0027g0320 |
2 | 350 | 0.0057 | 49 | c.931 others(64): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCC10_chr6_43422541_43455427 | 43450013 | C | CACCTATC others(42): Show |
frameshift_variant | HIGH | NA19011.hp2 | a0011 | a0011c0019 | a0011c0019t0004 | a0011c0019t0004g0092 | 1 | 342 | 0.0029 | 49 | c.440 others(58): Show |
p.Asn others(6): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 22/22 | 4631/5043 | 4403/4479 | 1468/1492 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CCTCTCTC others(42): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0065 | 1 | 249 | 0.0040 | 49 | c.49- others(64): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTCCTC others(42): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0042 | 1 | 249 | 0.0040 | 49 | c.49- others(64): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838649 | A | ACCTCCCA others(42): Show |
intron_variant | MODIFIER | HG01928.hp2 HG04204.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0123 a0001c0002t0003g0113 |
2 | 336 | 0.0060 | 49 | c.361 others(68): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99839217 | C | CCGGCTGG others(42): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 336 | 0.0030 | 49 | c.361 others(68): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244644 | A | AGGAAGGA others(42): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0050 | a0001c0050t0005 | a0001c0050t0005g0038 | 1 | 248 | 0.0040 | 49 | c.306 others(66): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184193134 | G | GGAGTCAT others(42): Show |
frameshift_variant | HIGH | NA18961.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0031 | 1 | 416 | 0.0024 | 49 | c.178 others(58): Show |
p.Arg others(5): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 19/21 | 1794/2446 | 1785/2130 | 595/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(42): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 376 | 0.0027 | 49 | c.-11 others(60): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149 a0001c0002t0002g0150 |
2 | 316 | 0.0063 | 49 | c.422 others(64): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142 | 1 | 316 | 0.0032 | 49 | c.422 others(64): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29558337 | C | CTCTTTCT others(42): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 418 | 0.0024 | 49 | c.*42 others(60): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 2209 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1048541 | T | TGGGCCAC others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0008a0001c0002t0011others(2): Show | a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 others(2): Show |
5 | 337 | 0.0148 | 49 | c.179 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1048635 | G | GTCCGGGG others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0047 | a0001c0006t0047g0227 | 1 | 337 | 0.0030 | 49 | c.179 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar |