regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH3_chr5_80649652_80881815 | 80654908 | G | GCAGCGCC others(20): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp2 | a0032 | a0032c0031 | a0032c0031t0005 | a0032c0031t0005g0022 | 1 | 362 | 0.0028 | 27 | c.203 others(34): Show |
p.Ala others(38): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 280/4443 | 204/3414 | 68/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
MSH3_chr5_80649652_80881815 | 80784212 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162a0001c0002t0001g0179 | 2 | 362 | 0.0055 | 27 | c.243 others(46): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH5_chr6_31735005_31767676 | 31746080 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 397 | 0.0025 | 27 | c.766 others(42): Show |
MSH5 | ENSG00000204410.16 | transcript | ENST00000375750.9 | protein_coding | 9/24 | chr6 | TogoVar | ||||||
MSH6_chr2_47778145_47811953 | 47788906 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03098.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0250a0002c0003t0001g0206 | 2 | 390 | 0.0051 | 27 | c.261 others(44): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57583488 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0057 | 1 | 168 | 0.0060 | 27 | c.455 others(46): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MSL2_chr3_136143917_136201335 | 136157201 | T | TGATCACC others(20): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0242a0001c0001t0010g0183 | 2 | 310 | 0.0065 | 27 | c.143 others(44): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
MSL2_chr3_136143917_136201335 | 136176444 | G | GGTTGAAG others(20): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 310 | 0.0032 | 27 | c.142 others(46): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767644 | A | AGGAGGGG others(20): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0322 | 1 | 388 | 0.0026 | 27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767711 | G | GGGCGCAT others(20): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 388 | 0.0026 | 27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767711 | G | GGGCGCAT others(20): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 388 | 0.0026 | 27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767752 | G | GCGCGTGG others(20): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 388 | 0.0026 | 27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767763 | A | AGGAGGGG others(20): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03490.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0134a0001c0001t0001g0163 | 3 | 388 | 0.0077 | 27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767979 | G | GGGCGCAT others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01884.hp1 NA18939.hp2 |
a0001a0016 | a0001c0001a0016c0029 | a0001c0001t0001a0016c0029t0001 | a0001c0001t0001g0134a0001c0001t0001g0341a0016c0029t0001g0225 | 3 | 388 | 0.0077 | 27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189309 | T | TAAAATCT others(20): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0077 | 1 | 330 | 0.0030 | 27 | c.-5+ others(42): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65396704 | A | AAAAAAAG others(20): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0118 | 1 | 312 | 0.0032 | 27 | c.292 others(46): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 NA19054.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002a0002c0002t0002g0002 | 2 | 398 | 0.0050 | 27 | c.-10 others(38): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 27 | c.-10 others(38): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01981.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010 | a0002c0002t0001g0002a0002c0002t0010g0014 | 2 | 398 | 0.0050 | 27 | c.-10 others(38): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 27 | c.-10 others(38): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609244 | T | TATATATA others(20): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 27 | c.-10 others(38): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 973 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155617244 | C | CAGGCTCA others(20): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(156): Show |
a0002a0007a0009 | a0002c0002a0007c0008a0009c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0012others(9): Show | 159 | 398 | 0.3995 | 27 | c.*29 others(38): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 2294 | chr1 | TogoVar | ||||||
MT1M_chr16_56627659_56638981 | 56638007 | G | GCCCCCCC others(20): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 1 | 446 | 0.0022 | 27 | c.*41 others(38): Show |
MT1M | ENSG00000205364.4 | transcript | ENST00000379818.4 | protein_coding | 4027 | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56561683 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 428 | 0.0023 | 27 | c.-34 others(38): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 3389 | chr16 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105472579 | C | CCCCCCCC others(20): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0220 | 1 | 304 | 0.0033 | 27 | c.*23 others(38): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 1851 | chr14 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0210 | 1 | 312 | 0.0032 | 27 | c.191 others(46): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 312 | 0.0032 | 27 | c.191 others(46): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 312 | 0.0032 | 27 | c.191 others(46): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 312 | 0.0032 | 27 | c.191 others(46): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 312 | 0.0032 | 27 | c.191 others(46): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 312 | 0.0032 | 27 | c.191 others(46): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTCH2_chr11_47612317_47647559 | 47633527 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 370 | 0.0027 | 27 | c.369 others(44): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 5/12 | chr11 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 370 | 0.0027 | 27 | c.104 others(46): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0076a0001c0001t0079others(1): Show | a0001c0001t0019g0109a0001c0001t0076g0174a0001c0001t0079g0152others(1): Show | 4 | 370 | 0.0108 | 27 | c.104 others(46): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01496.hp2 HG02148.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0001t0032a0001c0002t0003others(3): Show | a0001c0001t0031g0177a0001c0001t0032g0030a0001c0002t0003g0204others(5): Show | 8 | 370 | 0.0216 | 27 | c.104 others(46): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00735.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0201a0001c0002t0003g0202a0001c0002t0003g0203others(4): Show | 7 | 370 | 0.0189 | 27 | c.104 others(46): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02132.hp1 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0214a0001c0002t0003g0216 | 2 | 370 | 0.0054 | 27 | c.104 others(46): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697130 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03834.hp1 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0253a0001c0002t0003g0254 | 2 | 370 | 0.0054 | 27 | c.104 others(46): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697150 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0113 | 1 | 370 | 0.0027 | 27 | c.104 others(46): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97708581 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0186 | 1 | 370 | 0.0027 | 27 | c.127 others(46): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTERF3_chr8_96234402_96266610 | 96250615 | C | CAGAAGAA others(20): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0154 | 2 | 294 | 0.0068 | 27 | c.677 others(42): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250639 | A | AAGGAGGA others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0018a0001c0001t0001g0064others(4): Show | 10 | 294 | 0.0340 | 27 | c.677 others(42): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250681 | A | AAGAAGAA others(20): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 294 | 0.0034 | 27 | c.677 others(42): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250682 | A | AGAAGAAG others(20): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 2 | 294 | 0.0068 | 27 | c.677 others(42): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
MTF1_chr1_37804574_37864592 | 37838797 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01516.hp1 HG01517.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0006 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0252others(5): Show | 10 | 376 | 0.0266 | 27 | c.648 others(40): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
MTF2_chr1_93074283_93144076 | 93101568 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 340 | 0.0029 | 27 | c.6-8 others(40): Show |
MTF2 | ENSG00000143033.18 | transcript | ENST00000370298.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTFR1_chr8_65639734_65715562 | 65655969 | C | CATATATA others(20): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 348 | 0.0029 | 27 | c.-81 others(46): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62204618 | G | GAAAAAAC others(20): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0032 | 1 | 412 | 0.0024 | 27 | c.*35 others(38): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 1051 | chr20 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150998995 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 226 | 0.0044 | 27 | c.212 others(48): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151093408 | A | AAGCATGG others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0060a0001c0001t0001g0142a0001c0001t0001g0146others(4): Show | 7 | 226 | 0.0310 | 27 | c.*31 others(42): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151093408 | A | AAGCGTGG others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(121): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(121): Show | 124 | 226 | 0.5487 | 27 | c.*31 others(42): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |