| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SMYD3_chr1_245744347_246512279 | 245798397 | C | CACACACC others(436): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 150 | 0.0067 | 443 | c.107 others(464): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245798398 | A | ACACACCA others(436): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 150 | 0.0067 | 443 | c.107 others(464): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245798399 | C | CACACCAC others(436): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 |
a0002 | a0002c0005a0002c0007 | a0002c0005t0002a0002c0007t0001 | a0002c0005t0002g0118 a0002c0007t0001g0123 |
2 | 150 | 0.0133 | 443 | c.107 others(464): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
| SNX9_chr6_157818246_157950077 | 157827089 | C | CATATATT others(436): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0093 | 1 | 302 | 0.0033 | 443 | c.12+ others(458): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827176 | C | CATATATT others(436): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 302 | 0.0033 | 443 | c.12+ others(458): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SPATA3_chr2_230991121_231013040 | 231004974 | T | TCACCACA others(436): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0140 | 1 | 436 | 0.0023 | 443 | c.*11 others(460): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(436): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0022 | 1 | 251 | 0.0040 | 443 | c.*34 others(452): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
| SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(436): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 251 | 0.0040 | 443 | c.*34 others(452): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(436): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 422 | 0.0024 | 443 | c.*64 others(454): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
| STAB2_chr12_103582273_103771719 | 103768598 | G | GGGGAGGG others(436): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0131 | a0002c0131t0001 | a0002c0131t0001g0167 | 1 | 256 | 0.0039 | 443 | c.*22 others(454): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1880 | chr12 | TogoVar | |||||||
| STAB2_chr12_103582273_103771719 | 103768598 | G | GGGGAGGG others(436): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0005 | a0005c0059 | a0005c0059t0001 | a0005c0059t0001g0105 | 1 | 256 | 0.0039 | 443 | c.*22 others(454): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1880 | chr12 | TogoVar | |||||||
| STAB2_chr12_103582273_103771719 | 103768598 | G | GGGGAGGG others(436): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0082 | 1 | 256 | 0.0039 | 443 | c.*22 others(454): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1880 | chr12 | TogoVar | |||||||
| STAB2_chr12_103582273_103771719 | 103768598 | G | GGGGAGGG others(436): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0182 | 1 | 256 | 0.0039 | 443 | c.*22 others(454): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1880 | chr12 | TogoVar | |||||||
| STMN3_chr20_63634712_63658424 | 63641853 | C | CGCCCAGT others(436): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0060 others(3): Show |
9 | 388 | 0.0232 | 443 | c.483 others(458): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(436): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0040 | a0001c0003t0040g0161 | 1 | 276 | 0.0036 | 443 | c.-18 others(462): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(436): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0096 | a0001c0003t0096g0126 | 1 | 276 | 0.0036 | 443 | c.-18 others(462): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(436): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0094 | 1 | 276 | 0.0036 | 443 | c.-18 others(462): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(436): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0129 | 1 | 276 | 0.0036 | 443 | c.-18 others(462): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(436): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 276 | 0.0036 | 443 | c.-18 others(462): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(436): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0122 | 1 | 276 | 0.0036 | 443 | c.-18 others(462): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| TBCE_chr1_235362427_235457443 | 235412166 | C | CCCTCCCC others(436): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 268 | 0.0037 | 443 | c.186 others(460): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TCF25_chr16_89868592_89916379 | 89907833 | C | CCCTCCTC others(436): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 300 | 0.0033 | 443 | c.179 others(460): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
| TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GGTCAGGG others(436): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 466 | 0.0022 | 443 | c.*49 others(454): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
| TTLL8_chr22_50013575_50063298 | 50028710 | A | ACCCCACA others(436): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055 | 1 | 224 | 0.0045 | 443 | c.225 others(462): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
| TWIST2_chr2_238843085_238915534 | 238870974 | T | TACACACA others(436): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0302 | 1 | 338 | 0.0030 | 443 | c.*35 others(462): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
| ULK4_chr3_41241599_41967103 | 41890887 | G | GGAAGGGA others(436): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 72 | 0.0139 | 443 | c.157 others(462): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 16/36 | chr3 | TogoVar | |||||||
| VAV2_chr9_133756894_133997324 | 133828404 | G | GGCATCGC others(436): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0176 | 1 | 200 | 0.0050 | 443 | c.449 others(460): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
| VCX3A_chrX_6528618_6540118 | 6532752 | C | CCTCCCTC others(436): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0000 | a0000c0028 | a0000c0028t0001 | a0000c0028t0001g0027 | 1 | 74 | 0.0135 | 443 | c.*99 others(452): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 865 | chrX | TogoVar | |||||||
| VCX_chrX_7838171_7849143 | 7844370 | A | AGGGAGGG others(436): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0015 | a0015c0060 | a0015c0060t0001 | a0015c0060t0001g0002 | 1 | 341 | 0.0029 | 443 | c.*35 others(452): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 228 | chrX | TogoVar | |||||||
| WDR64_chr1_241647281_241807777 | 241674918 | T | TCCTTCCT others(436): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0279 | 1 | 326 | 0.0031 | 443 | c.483 others(458): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
| YBEY_chr21_46281342_46302751 | 46292564 | A | AACTCTAG others(436): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 404 | 0.0025 | 443 | c.339 others(460): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46292688 | C | CAGTGGAA others(436): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 404 | 0.0025 | 443 | c.339 others(460): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46292836 | C | CAGTGGAG others(436): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 404 | 0.0025 | 443 | c.339 others(460): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46293140 | T | TCAGCCAC others(436): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 404 | 0.0025 | 443 | c.339 others(460): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46293140 | T | TCAGCCAC others(436): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19000.hp2 NA19002.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 others(3): Show |
6 | 404 | 0.0149 | 443 | c.339 others(460): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46293342 | G | GTGCCCGG others(436): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 404 | 0.0025 | 443 | c.339 others(460): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46293806 | A | ACAGCCAC others(436): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 404 | 0.0050 | 443 | c.340 others(460): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46294488 | G | GACTCTAG others(436): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0346 | 1 | 404 | 0.0025 | 443 | c.340 others(460): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370881 | T | TCATATAT others(436): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 350 | 0.0029 | 443 | c.-35 others(454): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3487 | chr10 | TogoVar | |||||||
| ACTRT2_chr1_3016467_3027903 | 3016689 | G | GAGGGATG others(437): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 366 | 0.0027 | 444 | c.-49 others(455): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4777 | chr1 | TogoVar | |||||||
| ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(437): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0043 | 1 | 354 | 0.0028 | 444 | c.523 others(463): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| ADAMTS20_chr12_43348866_43557203 | 43474467 | G | GAATCCTC others(437): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG02895.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0012t0001others(1): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0009t0001g0192 others(5): Show |
8 | 306 | 0.0261 | 444 | c.111 others(463): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | |||||||
| ADAMTS20_chr12_43348866_43557203 | 43474510 | A | ACCAAAGC others(437): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(56): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0005a0006c0008t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(56): Show |
59 | 306 | 0.1928 | 444 | c.111 others(463): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | |||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(437): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0007 | a0007c0005 | a0007c0005t0003 | a0007c0005t0003g0229 | 1 | 276 | 0.0036 | 444 | c.535 others(461): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(437): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0112 | 1 | 352 | 0.0028 | 444 | c.*51 others(455): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
| ADGRL3_chr4_61195326_62083335 | 61847831 | A | ATATATAT others(437): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0033 | 1 | 58 | 0.0172 | 444 | c.148 others(465): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 424216 | G | GGGGTGTT others(437): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0015 | a0015c0016 | a0015c0016t0015 | a0015c0016t0015g0189 | 1 | 268 | 0.0037 | 444 | c.708 others(459): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ALK_chr2_29187774_29926586 | 29831105 | G | GAGCAGGA others(437): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0059 | 1 | 80 | 0.0125 | 444 | c.667 others(463): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
| ALK_chr2_29187774_29926586 | 29831105 | G | GAGCAGGA others(437): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0009 | 1 | 80 | 0.0125 | 444 | c.667 others(463): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
| ANO2_chr12_5557655_5950259 | 5929656 | T | TCCTCATT others(437): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0028 a0001c0001t0002g0140 a0001c0001t0005g0139 others(4): Show |
7 | 162 | 0.0432 | 444 | c.23- others(459): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar |