| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(598): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 122 | 0.0082 | 605 | c.*70 others(616): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PCSK6_chr15_101298933_101494707 | 101311811 | C | CCCCTCAC others(598): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 290 | 0.0034 | 605 | c.269 others(624): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(598): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 50 | 0.0200 | 605 | c.129 others(622): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(598): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006 | a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0006g0179 |
3 | 52 | 0.0577 | 605 | c.129 others(622): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
| PDXK_chr21_43714129_43767299 | 43741280 | G | GGGGGGCT others(598): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0060 | 1 | 299 | 0.0033 | 605 | c.143 others(620): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PHF2_chr9_93571584_93684587 | 93618897 | G | GTTTCCAT others(598): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18950.hp1 NA18961.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0005a0001c0005t0010 | a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 others(3): Show |
6 | 204 | 0.0294 | 605 | c.99- others(622): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PHF2_chr9_93571584_93684587 | 93618897 | G | GTTTCCAT others(598): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0249 | 1 | 199 | 0.0050 | 605 | c.99- others(622): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PHF2_chr9_93571584_93684587 | 93618897 | G | GTTTCCAT others(598): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0263 | 1 | 199 | 0.0050 | 605 | c.99- others(622): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PHF2_chr9_93571584_93684587 | 93618897 | G | GTTTCCAT others(598): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0307 | 1 | 199 | 0.0050 | 605 | c.99- others(622): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50344838 | T | TCCCCCCC others(598): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 325 | 0.0031 | 605 | c.-14 others(624): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803282 | T | TGGGGGCC others(598): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0283 a0001c0001t0004g0284 |
2 | 121 | 0.0165 | 605 | c.-49 others(616): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4665 | chr9 | TogoVar | |||||||
| RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(598): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02129.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0196 a0001c0001t0001g0217 |
3 | 83 | 0.0361 | 605 | c.132 others(622): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 218312 | C | CCCAAGGC others(598): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 94 | 0.0106 | 605 | c.727 others(622): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 218312 | C | CCCAAGGC others(598): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 94 | 0.0106 | 605 | c.727 others(622): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(598): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 40 | 0.0250 | 605 | c.77- others(622): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(598): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 45 | 0.0222 | 605 | c.22+ others(622): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 116947170 | T | TATTATTT others(598): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0016 | a0016c0021 | a0016c0021t0005 | a0016c0021t0005g0173 | 1 | 344 | 0.0029 | 605 | c.454 others(622): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(598): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0327 | 1 | 283 | 0.0035 | 605 | c.-12 others(616): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 965130 | A | ACCCCAGT others(598): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0097 | 1 | 176 | 0.0057 | 605 | c.72+ others(622): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(598): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 221 | 0.0045 | 605 | c.175 others(620): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| SULF2_chr20_47652406_47790481 | 47670718 | C | CGGGGTGG others(598): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0334 | 1 | 362 | 0.0028 | 605 | c.157 others(624): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
| TAFA5_chr22_48484553_48756932 | 48605185 | G | GATGATGG others(598): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 256 | 0.0039 | 605 | c.113 others(624): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
| TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(598): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 57 | 0.0175 | 605 | c.113 others(624): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(598): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0170 |
2 | 58 | 0.0345 | 605 | c.113 others(624): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(598): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(5): Show | a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0001g0173 others(14): Show |
17 | 73 | 0.2329 | 605 | c.113 others(624): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(598): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 57 | 0.0175 | 605 | c.113 others(624): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TCF25_chr16_89868592_89916379 | 89884962 | C | CCCTCTCC others(598): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 271 | 0.0037 | 605 | c.429 others(620): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(598): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0020 | 1 | 58 | 0.0172 | 605 | c.143 others(626): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(598): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 298 | 0.0034 | 605 | c.-23 others(622): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(598): Show |
intron_variant | MODIFIER | NA19066.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 a0001c0001t0002g0101 |
2 | 299 | 0.0067 | 605 | c.-23 others(622): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(598): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0095 others(6): Show |
11 | 308 | 0.0357 | 605 | c.-23 others(622): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(598): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 298 | 0.0034 | 605 | c.-23 others(622): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(598): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 115 | 0.0087 | 605 | c.*29 others(616): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(598): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0143 | 1 | 8 | 0.1250 | 605 | c.657 others(620): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50029244 | C | CCTCGTAA others(598): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0160 | 1 | 210 | 0.0048 | 605 | c.225 others(624): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
| ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(598): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0179 | 1 | 274 | 0.0036 | 605 | c.218 others(622): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| VCX2_chrX_8164944_8176267 | 8169273 | C | CCCTCCCT others(598): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 107 | 0.0093 | 605 | c.*75 others(614): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 670 | chrX | TogoVar | |||||||
| VCX2_chrX_8164944_8176267 | 8169649 | C | CCTCTTCC others(598): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0026 | 1 | 113 | 0.0088 | 605 | c.*38 others(614): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 294 | chrX | TogoVar | |||||||
| VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(598): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0006 | 1 | 209 | 0.0048 | 605 | c.*79 others(614): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | |||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(598): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 100 | 0.0100 | 605 | c.-10 others(622): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
| ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(598): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0232 | 1 | 44 | 0.0227 | 605 | c.-1- others(622): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(598): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0005 | a0004c0005t0011 | a0004c0005t0011g0162 | 1 | 253 | 0.0040 | 605 | c.-35 others(616): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370989 | T | TATATGAT others(598): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 291 | 0.0034 | 605 | c.-34 others(616): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3379 | chr10 | TogoVar | |||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(598): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 183 | 0.0055 | 605 | c.-42 others(616): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1159522 | G | GGAATGCG others(599): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0054 | a0001c0003t0054g0232 | 1 | 328 | 0.0030 | 606 | c.61+ others(623): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
| ACAP3_chr1_1287391_1312930 | 1288475 | T | TCCCCCGT others(599): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 262 | 0.0038 | 606 | c.*50 others(617): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3915 | chr1 | TogoVar | |||||||
| ACSF3_chr16_89088852_89161233 | 89137338 | G | GGGTCCCG others(599): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0250 | 1 | 364 | 0.0027 | 606 | c.136 others(625): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ACSF3_chr16_89088852_89161233 | 89137345 | G | GGGAGGAC others(599): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0346 | 1 | 342 | 0.0029 | 606 | c.136 others(625): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ACSF3_chr16_89088852_89161233 | 89137345 | G | GGGAGGAC others(599): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0081 | 1 | 342 | 0.0029 | 606 | c.136 others(625): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(599): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0083 | 1 | 236 | 0.0042 | 606 | c.523 others(625): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |