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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXK2_chr17_82514732_82609602 | 82586254 | C | CGGGGGGG others(5430): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0112 | 1 | 308 | 0.0033 | 5437 | c.157 others(5452): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740537 | C | TAGGGAGT others(5432): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 445 | 0.0023 | 5439 | c.-23 others(5450): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2334 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1740537 | C | TAGGGAGT others(5432): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0059 | 1 | 431 | 0.0023 | 5439 | c.*28 others(5450): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1952 | chr17 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5433): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0180 | 1 | 344 | 0.0029 | 5440 | c.127 others(5457): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5433): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 344 | 0.0029 | 5440 | c.127 others(5457): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5433): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0144 | 1 | 282 | 0.0036 | 5440 | c.286 others(5457): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5433): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 282 | 0.0036 | 5440 | c.286 others(5457): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5433): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0072 | 1 | 282 | 0.0036 | 5440 | c.286 others(5457): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5434): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0306 | 1 | 344 | 0.0029 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5434): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0277 | 1 | 344 | 0.0029 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5434): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 344 | 0.0029 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5434): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0319 a0001c0001t0003g0268 |
2 | 344 | 0.0058 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5434): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 344 | 0.0029 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5434): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 344 | 0.0029 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5434): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 344 | 0.0029 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5434): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0314 | 1 | 344 | 0.0029 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5434): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249 | 1 | 344 | 0.0029 | 5441 | c.127 others(5458): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113114005 | G | GGAGAAGG others(5434): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03486.hp1 NA21309.hp2 |
a0001 | a0001c0023a0001c0028 | a0001c0023t0010a0001c0028t0024a0001c0028t0043 | a0001c0023t0010g0059 a0001c0028t0024g0087 a0001c0028t0043g0079 |
3 | 160 | 0.0188 | 5441 | c.102 others(5460): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113114005 | G | GGAGAAGG others(5435): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG03209.hp2 |
a0001 | a0001c0024a0001c0051 | a0001c0024t0009a0001c0051t0009 | a0001c0024t0009g0045 a0001c0024t0009g0056 a0001c0051t0009g0109 |
3 | 160 | 0.0188 | 5442 | c.102 others(5461): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113114005 | G | GGAGAAGG others(5435): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0023 | a0001c0023t0040 | a0001c0023t0040g0057 | 1 | 160 | 0.0063 | 5442 | c.102 others(5461): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56776773 | C | CTCCTCCT others(5435): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0041 |
2 | 160 | 0.0125 | 5442 | c.*16 others(5463): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776773 | C | CTCCTCCT others(5435): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 160 | 0.0063 | 5442 | c.*16 others(5463): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113114005 | G | GGAGAAGG others(5436): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG03041.hp2 others(1): Show |
a0001a0003 | a0001c0045a0001c0050a0003c0035others(1): Show | a0001c0045t0027a0001c0050t0005a0003c0035t0001others(1): Show | a0001c0045t0027g0061 a0001c0050t0005g0106 a0003c0035t0001g0001 others(1): Show |
4 | 160 | 0.0250 | 5443 | c.102 others(5462): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771371 | C | CTCCTCCT others(5436): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 160 | 0.0063 | 5443 | c.*16 others(5464): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771371 | C | CTCCTCCT others(5436): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 160 | 0.0063 | 5443 | c.*16 others(5464): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776773 | C | CTCCTCCT others(5436): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03834.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0036 |
3 | 160 | 0.0188 | 5443 | c.*16 others(5464): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776773 | C | CTCCTCCT others(5436): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 160 | 0.0063 | 5443 | c.*16 others(5464): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5436): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0081 | 1 | 266 | 0.0038 | 5443 | c.-34 others(5458): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FAM90A23_chr8_7574644_7587653 | 7579760 | T | TCTGAGCG others(5437): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp1 | a0033 | a0033c0028 | a0033c0028t0001 | a0033c0028t0001g0032 | 1 | 142 | 0.0070 | 5444 | c.127 others(5453): Show |
p.Ser others(5): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 4/4 | 1278/1395 | 1278/1395 | 426/464 | chr8 | TogoVar | |||
NBDY_chrX_56724243_56824179 | 56776773 | C | CTCCTCCT others(5437): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018 | 1 | 160 | 0.0063 | 5444 | c.*16 others(5465): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776773 | C | CTCCTCCT others(5437): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 160 | 0.0063 | 5444 | c.*16 others(5465): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5438): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0169 | 1 | 318 | 0.0031 | 5445 | c.225 others(5462): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
FAM90A23_chr8_7574644_7587653 | 7579810 | G | GCCAGGAG others(5438): Show |
stop_gained others(1): Show |
HIGH | NA19087.hp1 | a0038 | a0038c0027 | a0038c0027t0001 | a0038c0027t0001g0031 | 1 | 142 | 0.0070 | 5445 | c.122 others(5454): Show |
p.Leu others(5458): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 4/4 | 1228/1395 | 1228/1395 | 410/464 | chr8 | TogoVar | |||
NBDY_chrX_56724243_56824179 | 56770915 | T | TGGGGGGG others(5438): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 160 | 0.0063 | 5445 | c.*16 others(5466): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5438): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 266 | 0.0038 | 5445 | c.-34 others(5460): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5438): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02809.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0008a0006c0010t0008 | a0001c0001t0008g0020 a0006c0010t0008g0020 |
2 | 266 | 0.0075 | 5445 | c.-34 others(5460): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5438): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 | 1 | 266 | 0.0038 | 5445 | c.-34 others(5460): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 266 | 0.0038 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 7 | 266 | 0.0263 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 266 | 0.0038 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 266 | 0.0038 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 2 | 266 | 0.0075 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 266 | 0.0038 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59300167 | T | TACTAAAT others(5440): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 74 | 0.0135 | 5447 | c.456 others(5466): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TACCCTCC others(5441): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0021 | 1 | 178 | 0.0056 | 5448 | c.773 others(5463): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4265399 | T | TAGAAAGG others(5443): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0088 | 1 | 188 | 0.0053 | 5450 | c.388 others(5469): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065223 | A | ACTGTTAT others(5444): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0253 | 1 | 337 | 0.0030 | 5451 | c.118 others(5470): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5444): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 266 | 0.0038 | 5451 | c.-34 others(5466): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5446): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 370 | 0.0027 | 5453 | c.891 others(5468): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716419 | T | TTGGTGTC others(5447): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 170 | 0.0059 | 5454 | c.86- others(5465): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |