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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RHEX_chr1_206048173_206107449 | 206056136 | G | GAGAGCCC others(5905): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 334 | 0.0030 | 5912 | c.-97 others(5929): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206056136 | G | GAGAGCCC others(5905): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 334 | 0.0030 | 5912 | c.-97 others(5929): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206056136 | G | GAGAGCCC others(5905): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 334 | 0.0030 | 5912 | c.-97 others(5929): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206056136 | G | GAGAGCCC others(5905): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0295 | 1 | 334 | 0.0030 | 5912 | c.-97 others(5929): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206056877 | G | GTTATTTC others(5905): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01106.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show |
5 | 334 | 0.0150 | 5912 | c.-97 others(5929): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206056877 | G | GTTATTTC others(5905): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 334 | 0.0030 | 5912 | c.-97 others(5929): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206057282 | G | GAGAATTG others(5905): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19068.hp1 NA19091.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0200 a0001c0001t0001g0202 a0005c0009t0001g0201 |
3 | 334 | 0.0090 | 5912 | c.-97 others(5929): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206056136 | G | GAGAGCCC others(5906): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 334 | 0.0030 | 5913 | c.-97 others(5930): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206056136 | G | GAGAGCCC others(5906): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 334 | 0.0030 | 5913 | c.-97 others(5930): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5910): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 |
3 | 120 | 0.0250 | 5917 | c.*89 others(5928): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5911): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01496.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0017g0071 |
3 | 120 | 0.0250 | 5918 | c.*89 others(5929): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(5912): Show |
disruptive_inframe_insertion | MODERATE | HG01261.hp2 | a0055 | a0055c0262 | a0055c0262t0001 | a0055c0262t0001g0056 | 1 | 342 | 0.0029 | 5919 | c.136 others(5930): Show |
p.Pro others(5934): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(5912): Show |
disruptive_inframe_insertion | MODERATE | HG04115.hp2 | a0102 | a0102c0101 | a0102c0101t0001 | a0102c0101t0001g0118 | 1 | 342 | 0.0029 | 5919 | c.136 others(5930): Show |
p.Pro others(5934): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(5912): Show |
disruptive_inframe_insertion | MODERATE | NA18967.hp2 | a0013 | a0013c0131 | a0013c0131t0001 | a0013c0131t0001g0214 | 1 | 342 | 0.0029 | 5919 | c.136 others(5930): Show |
p.Pro others(5934): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(5912): Show |
disruptive_inframe_insertion | MODERATE | HG02155.hp2 | a0003 | a0003c0112 | a0003c0112t0001 | a0003c0112t0001g0111 | 1 | 342 | 0.0029 | 5919 | c.136 others(5930): Show |
p.Pro others(5934): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5912): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0054 a0001c0001t0020g0114 |
2 | 120 | 0.0167 | 5919 | c.*89 others(5930): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293666 | G | GCAAGTTA others(5912): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 404 | 0.0025 | 5919 | c.339 others(5936): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693708 | A | ACCACCTC others(5913): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 296 | 0.0034 | 5920 | c.*67 others(5931): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4938 | chr20 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5914): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02818.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0081 a0001c0001t0006g0089 a0001c0001t0012g0020 |
3 | 120 | 0.0250 | 5921 | c.*89 others(5932): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ATAGGGTG others(5915): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 376 | 0.0027 | 5922 | c.101 others(5939): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415697 | G | GTAGGGGG others(5919): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 323 | 0.0031 | 5926 | c.-85 others(5945): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5919): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0107 | 1 | 120 | 0.0083 | 5926 | c.*89 others(5937): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(5924): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0168 | 1 | 376 | 0.0027 | 5931 | c.101 others(5948): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(5927): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 167 | 0.0060 | 5934 | c.*53 others(5945): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5930): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 370 | 0.0027 | 5937 | c.891 others(5952): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5931): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 370 | 0.0027 | 5938 | c.891 others(5953): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGGAGGGC others(5931): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0081 | a0081c0115 | a0081c0115t0001 | a0081c0115t0001g0172 | 1 | 282 | 0.0036 | 5938 | c.299 others(5953): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914257 | G | GGTGTGTG others(5933): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 420 | 0.0024 | 5940 | c.*35 others(5951): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2572 | chr9 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311780 | G | GTGCCCCA others(5934): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 344 | 0.0029 | 5941 | c.327 others(5958): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5937): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 251 | 0.0040 | 5944 | c.-45 others(5953): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693729 | A | ACCACCAC others(5942): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 296 | 0.0034 | 5949 | c.*67 others(5960): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4917 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5942): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 251 | 0.0040 | 5949 | c.-45 others(5958): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5943): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0267 | 1 | 328 | 0.0031 | 5950 | c.225 others(5967): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5943): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0269 | 1 | 328 | 0.0031 | 5950 | c.225 others(5967): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(5949): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0253 | 1 | 370 | 0.0027 | 5956 | c.891 others(5973): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(5952): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0008 | a0008c0024 | a0008c0024t0013 | a0008c0024t0013g0112 | 1 | 318 | 0.0031 | 5959 | c.268 others(5978): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5954): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 170 | 0.0059 | 5961 | c.86- others(5974): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(5956): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0044 | 1 | 168 | 0.0060 | 5963 | c.206 others(5984): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103551297 | A | ATTTTTTT others(5956): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0216 | 1 | 312 | 0.0032 | 5963 | c.86- others(5980): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACGG others(5958): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 368 | 0.0027 | 5965 | c.401 others(5982): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5960): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 328 | 0.0031 | 5967 | c.225 others(5984): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377643 | T | TGATCTGA others(5965): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0020 | 1 | 302 | 0.0033 | 5972 | c.*41 others(5987): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5967): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 120 | 0.0083 | 5974 | c.*89 others(5985): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5968): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 120 | 0.0083 | 5975 | c.*89 others(5986): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5968): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 120 | 0.0083 | 5975 | c.*89 others(5986): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5968): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 120 | 0.0083 | 5975 | c.*89 others(5986): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5969): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0248 | 1 | 344 | 0.0029 | 5976 | c.127 others(5993): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5969): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 120 | 0.0083 | 5976 | c.*89 others(5987): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5970): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0018 | 1 | 323 | 0.0031 | 5977 | c.-85 others(5996): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5970): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0109 | 1 | 120 | 0.0083 | 5977 | c.*89 others(5988): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar |