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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0063 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0057 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0005 | a0005c0030 | a0005c0030t0001 | a0005c0030t0001g0058 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0073 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0062 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0064 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5426): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 129 | 0.0078 | 5433 | c.86- others(5444): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTGGTGGT others(5427): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0145 | 1 | 2 | 0.5000 | 5434 | c.126 others(5451): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113114005 | G | GGAGAAGG others(5429): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0037 | a0003c0037t0032 | a0003c0037t0032g0025 | 1 | 145 | 0.0069 | 5436 | c.102 others(5455): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113114005 | G | GGAGAAGG others(5429): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0025 | a0001c0025t0041a0001c0025t0042 | a0001c0025t0041g0063 a0001c0025t0042g0062 |
2 | 146 | 0.0137 | 5436 | c.102 others(5455): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CGGGGGGG others(5430): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0112 | 1 | 242 | 0.0041 | 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 | a0002c0002t0001g0048 | 1 | 443 | 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 | a0003c0004t0003g0058 | 1 | 429 | 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 | a0001c0002t0002g0178 | 1 | 241 | 0.0041 | 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 | a0001c0001t0003g0141 | 1 | 173 | 0.0058 | 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 | 62 | 0.0161 | 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 | a0001c0001t0001g0228 | 1 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | a0002c0005t0004g0310 | 1 | 241 | 0.0041 | 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 | a0002c0008t0004g0280 | 1 | 241 | 0.0041 | 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 | a0001c0001t0001g0276 | 1 | 241 | 0.0041 | 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 | a0001c0001t0001g0326 a0001c0001t0003g0268 |
2 | 242 | 0.0083 | 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 | a0001c0001t0001g0296 | 1 | 241 | 0.0041 | 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 | a0001c0001t0001g0316 | 1 | 241 | 0.0041 | 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 | a0001c0001t0001g0328 | 1 | 173 | 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 | 236715026 | C | CCACTGAA others(5434): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0318 | 1 | 173 | 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 | 236715026 | C | CCACTGAA others(5434): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 173 | 0.0058 | 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 | 147 | 0.0204 | 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 | 147 | 0.0204 | 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 | 145 | 0.0069 | 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 | a0001c0001t0003g0014 a0001c0001t0003g0041 |
2 | 149 | 0.0134 | 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 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 148 | 0.0068 | 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 | 148 | 0.0270 | 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 | a0001c0001t0003g0026 | 1 | 156 | 0.0064 | 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 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 156 | 0.0064 | 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 | a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0034 |
3 | 150 | 0.0200 | 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 | a0001c0001t0003g0039 | 1 | 148 | 0.0068 | 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 | 3 | 0.3333 | 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 | 122 | 0.0082 | 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 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 148 | 0.0068 | 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 | 148 | 0.0068 | 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 | 212 | 0.0047 | 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 | 128 | 0.0078 | 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 |