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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH2_chr2_47398156_47488223 | 47461966 | T | TCTTTTCT others(12): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0047 | 1 | 370 | 0.0027 | 19 | c.138 others(38): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSH2_chr2_47398156_47488223 | 47480202 | T | TCTTCCTC others(12): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360a0001c0001t0001g0361a0001c0001t0001g0362others(4): Show | 7 | 370 | 0.0189 | 19 | c.245 others(36): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80654344 | C | CTGGCGCG others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0003a0003c0004others(20): Show | a0001c0001t0007a0001c0001t0022a0002c0003t0003others(34): Show | a0001c0001t0007g0223a0001c0001t0007g0224a0001c0001t0022g0304others(145): Show | 150 | 362 | 0.4144 | 19 | c.-38 others(28): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 307 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80784212 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02145.hp1 HG02615.hp1 others(1): Show |
a0001a0010a0028others(1): Show | a0001c0002a0010c0014a0028c0034others(1): Show | a0001c0002t0001a0010c0014t0011a0028c0034t0005others(1): Show | a0001c0002t0001g0144a0010c0014t0011g0302a0028c0034t0005g0180others(1): Show | 4 | 362 | 0.0111 | 19 | c.243 others(38): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80784231 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 362 | 0.0028 | 19 | c.243 others(38): 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(12): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19003.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066a0001c0002t0001g0281 | 2 | 397 | 0.0050 | 19 | c.766 others(34): Show |
MSH5 | ENSG00000204410.16 | transcript | ENST00000375750.9 | protein_coding | 9/24 | chr6 | TogoVar | ||||||
MSH6_chr2_47778145_47811953 | 47788906 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03831.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0246a0002c0003t0001g0319 | 2 | 390 | 0.0051 | 19 | c.261 others(36): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
MSH6_chr2_47778145_47811953 | 47788906 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0190 | 2 | 390 | 0.0051 | 19 | c.261 others(36): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
MSL2_chr3_136143917_136201335 | 136159354 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 310 | 0.0032 | 19 | c.143 others(36): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 760540 | A | ACCCCCAC others(12): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0202 | 1 | 388 | 0.0026 | 19 | c.-39 others(28): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 193 | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 769224 | G | GCCCCGGC others(12): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 388 | 0.0026 | 19 | c.*49 others(28): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 363 | chr16 | TogoVar | ||||||
MSMO1_chr4_165322669_165348164 | 165329625 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 462 | 0.0022 | 19 | c.-32 others(36): Show |
MSMO1 | ENSG00000052802.13 | transcript | ENST00000261507.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16186793 | A | AGTTACTT others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(54): Show | 57 | 330 | 0.1727 | 19 | c.-5+ others(34): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16187364 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0043a0001c0001t0014g0044 | 2 | 330 | 0.0061 | 19 | c.-5+ others(34): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10113292 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01071.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0093others(21): Show | 24 | 286 | 0.0839 | 19 | c.142 others(38): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MSRA_chr8_10049292_10433891 | 10328027 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0038 | 1 | 286 | 0.0035 | 19 | c.543 others(36): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MSRA_chr8_10049292_10433891 | 10426975 | G | GGGCCTCA others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(280): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(280): Show | 283 | 286 | 0.9895 | 19 | c.544 others(36): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MSRB1_chr16_1933229_1948199 | 1934084 | G | GTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02717.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0006g0018 | 4 | 448 | 0.0089 | 19 | c.*50 others(30): Show |
MSRB1 | ENSG00000198736.13 | transcript | ENST00000361871.8 | protein_coding | 4144 | chr16 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 NA18979.hp1 NA19067.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 4 | 398 | 0.0101 | 19 | c.-10 others(30): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609243 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 NA18971.hp2 NA18972.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002a0002c0002t0002g0002 | 4 | 398 | 0.0101 | 19 | c.-10 others(30): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 974 | chr1 | TogoVar | ||||||
MSTO1_chr1_155605218_155619951 | 155609244 | T | TATATATA others(12): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 19 | c.-10 others(30): Show |
MSTO1 | ENSG00000125459.18 | transcript | ENST00000245564.8 | protein_coding | 973 | chr1 | TogoVar | ||||||
MT1E_chr16_56620781_56632112 | 56624586 | G | GTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 458 | 0.0022 | 19 | c.-12 others(30): Show |
MT1E | ENSG00000169715.15 | transcript | ENST00000330439.7 | protein_coding | 1194 | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56561683 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0091a0002c0002t0001g0138 | 2 | 428 | 0.0047 | 19 | c.-34 others(30): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 3389 | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566803 | A | AAGGAAGG others(12): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0393 | 1 | 428 | 0.0023 | 19 | c.32- others(32): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MT4_chr16_56560073_56573957 | 56566819 | A | AAGGAAGG others(12): Show |
intron_variant | MODIFIER | HG01099.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0381a0001c0001t0001g0382 | 2 | 428 | 0.0047 | 19 | c.32- others(32): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MTA1_chr14_105414827_105475729 | 105474626 | G | GGGGCCCG others(12): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 304 | 0.0033 | 19 | c.*44 others(30): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 3898 | chr14 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42565113 | A | ACTCATAC others(12): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 312 | 0.0032 | 19 | c.-36 others(30): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3518 | chr2 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 312 | 0.0032 | 19 | c.191 others(38): 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(12): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223a0001c0001t0004g0224 | 2 | 312 | 0.0064 | 19 | c.191 others(38): 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(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0227a0001c0001t0012g0249 | 2 | 312 | 0.0064 | 19 | c.191 others(38): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42745824 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01192.hp2 others(27): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0198a0001c0001t0002g0236a0001c0001t0002g0287others(27): Show | 30 | 312 | 0.0962 | 19 | c.176 others(38): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTAP_chr9_21797636_21872081 | 21802983 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0014 | 1 | 382 | 0.0026 | 19 | c.33+ others(32): Show |
MTAP | ENSG00000099810.21 | transcript | ENST00000644715.2 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
MTAP_chr9_21797636_21872081 | 21802985 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0341 | 1 | 382 | 0.0026 | 19 | c.33+ others(32): Show |
MTAP | ENSG00000099810.21 | transcript | ENST00000644715.2 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
MTARC2_chr1_220743322_220789815 | 220745658 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(39): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0037others(35): Show | 42 | 398 | 0.1055 | 19 | c.-28 others(30): Show |
MTARC2 | ENSG00000117791.16 | transcript | ENST00000366913.8 | protein_coding | 2663 | chr1 | TogoVar | ||||||
MTARC2_chr1_220743322_220789815 | 220769934 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0056 | 1 | 398 | 0.0025 | 19 | c.750 others(36): Show |
MTARC2 | ENSG00000117791.16 | transcript | ENST00000366913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTBP_chr8_120440419_120528636 | 120516284 | A | ATTTCTTC others(12): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0099 | 1 | 352 | 0.0028 | 19 | c.224 others(35): Show |
MTBP | ENSG00000172167.8 | transcript | ENST00000305949.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTCH2_chr11_47612317_47647559 | 47633527 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03041.hp1 NA18939.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0161a0001c0001t0001g0183a0001c0001t0001g0196others(3): Show | 6 | 370 | 0.0162 | 19 | c.369 others(36): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 5/12 | chr11 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97678594 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0150 | 1 | 370 | 0.0027 | 19 | c.484 others(36): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697119 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03471.hp1 HG04115.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0017a0001c0001t0001g0078a0001c0001t0001g0079others(2): Show | 5 | 370 | 0.0135 | 19 | c.104 others(38): 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(12): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03209.hp1 |
a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0127a0002c0003t0013g0129a0002c0003t0013g0130 | 3 | 370 | 0.0081 | 19 | c.104 others(38): 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(12): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18986.hp2 |
a0001 | a0001c0002 | a0001c0002t0081a0001c0002t0089 | a0001c0002t0081g0242a0001c0002t0089g0197 | 2 | 370 | 0.0054 | 19 | c.104 others(38): 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(12): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0039 | a0001c0001t0016g0121a0001c0001t0016g0122a0001c0001t0039g0126 | 3 | 370 | 0.0081 | 19 | c.104 others(38): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTF1_chr1_37804574_37864592 | 37838794 | A | ATTCTTTT others(12): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0302 | 1 | 376 | 0.0027 | 19 | c.648 others(32): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
MTF1_chr1_37804574_37864592 | 37838797 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02040.hp1 HG02074.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0040others(1): Show | a0001c0002t0003g0314a0001c0002t0003g0315a0001c0002t0003g0317others(8): Show | 12 | 376 | 0.0319 | 19 | c.648 others(32): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
MTFR1L_chr1_25814954_25837938 | 25831641 | C | CTATTTCA others(12): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03491.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 5 | 402 | 0.0124 | 19 | c.774 others(34): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTG1_chr10_133389157_133427520 | 133395067 | G | GAGCCAGT others(12): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 428 | 0.0023 | 19 | c.113 others(34): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MTG1_chr10_133389157_133427520 | 133397779 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG03669.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0240a0001c0001t0003g0243a0001c0001t0003g0247others(2): Show | 5 | 428 | 0.0117 | 19 | c.283 others(34): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 150916467 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 226 | 0.0044 | 19 | c.893 others(36): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 150923538 | T | TTTATTTA others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02165.hp1 NA19091.hp1 |
a0001a0007 | a0001c0001a0001c0002a0007c0013 | a0001c0001t0001a0001c0002t0008a0007c0013t0001 | a0001c0001t0001g0022a0001c0002t0008g0207a0007c0013t0001g0086 | 3 | 226 | 0.0133 | 19 | c.108 others(38): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 150998995 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00735.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0009a0001c0001t0002g0107a0001c0001t0003g0066others(9): Show | 12 | 226 | 0.0531 | 19 | c.212 others(40): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |