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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MPDZ_chr9_13100707_13284692 | 13136325 | C | CTTTTTTT others(37): Show |
intron_variant | MODIFIER | HG03225.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0010 | a0001c0003t0007g0294 a0001c0003t0010g0289 |
2 | 115 | 0.0174 | 44 | c.429 others(61): Show |
MPDZ | ENSG00000107186.17 | transcript | ENST00000319217.12 | protein_coding | 30/46 | chr9 | TogoVar | |||||||
MPI_chr15_74885042_74907219 | 74894107 | T | TGTGTGTG others(37): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004 | 1 | 206 | 0.0049 | 44 | c.670 others(59): Show |
MPI | ENSG00000178802.18 | transcript | ENST00000352410.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MPV17_chr2_27304492_27328097 | 27327588 | T | TCTCTCTC others(37): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 300 | 0.0033 | 44 | c.-45 others(55): Show |
MPV17 | ENSG00000115204.15 | transcript | ENST00000380044.6 | protein_coding | 4492 | chr2 | TogoVar | |||||||
MRFAP1_chr4_6635685_6647729 | 6640615 | C | CGTATATC others(37): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 44 | c.-24 others(53): Show |
MRFAP1 | ENSG00000179010.16 | transcript | ENST00000382581.5 | protein_coding | 69 | chr4 | TogoVar | |||||||
MRGPRG_chr11_3212944_3223813 | 3214874 | T | TCCATCCA others(37): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01934.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 364 | 0.0110 | 44 | c.*30 others(55): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 3069 | chr11 | TogoVar | |||||||
MRM3_chr17_777353_797509 | 793129 | G | GGTGGCTC others(37): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 |
2 | 412 | 0.0049 | 44 | c.*10 others(55): Show |
MRM3 | ENSG00000171861.11 | transcript | ENST00000304478.9 | protein_coding | 621 | chr17 | TogoVar | |||||||
MROH9_chr1_170930534_171069765 | 170933501 | A | AAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01258.hp1 others(12): Show |
a0001a0002a0012others(2): Show | a0001c0001a0002c0002a0012c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0081 a0001c0001t0002g0006 others(12): Show |
15 | 24 | 0.6250 | 44 | c.-21 others(55): Show |
MROH9 | ENSG00000117501.15 | transcript | ENST00000367759.9 | protein_coding | 2032 | chr1 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 369614 | C | CCCGACCT others(37): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01069.hp2 others(22): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0005a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0205 a0001c0001t0003g0051 a0001c0001t0004g0111 others(14): Show |
25 | 377 | 0.0663 | 44 | c.288 others(59): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
MRPL45_chr17_38292168_38328211 | 38313331 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0013 | 1 | 282 | 0.0035 | 44 | c.462 others(61): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(37): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0220 |
2 | 111 | 0.0180 | 44 | c.48+ others(59): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(37): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0200 a0001c0001t0022g0199 |
2 | 111 | 0.0180 | 44 | c.48+ others(59): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(37): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0182 |
2 | 111 | 0.0180 | 44 | c.48+ others(59): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(37): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18970.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0161 a0001c0001t0001g0162 |
4 | 113 | 0.0354 | 44 | c.48+ others(59): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(37): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 110 | 0.0091 | 44 | c.48+ others(59): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
MRPS10_chr6_42201807_42222861 | 42216385 | A | AGAGAGAG others(37): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 |
2 | 111 | 0.0180 | 44 | c.48+ others(59): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
MSH2_chr2_47398156_47488223 | 47442359 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01256.hp1 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 others(15): Show |
18 | 367 | 0.0490 | 44 | c.127 others(63): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47482001 | A | ATAATAAT others(37): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 368 | 0.0027 | 44 | c.263 others(61): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80692122 | A | ATAGATAA others(37): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0089 | 1 | 345 | 0.0029 | 44 | c.134 others(65): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80692150 | A | ATAGATAA others(37): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03654.hp1 NA18906.hp1 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0002a0001c0001t0011a0006c0008t0005 | a0001c0001t0002g0070 a0001c0001t0011g0318 a0006c0008t0005g0342 |
3 | 358 | 0.0084 | 44 | c.134 others(65): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80692250 | A | ATAGATAA others(37): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01070.hp1 others(28): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0007a0008c0009others(2): Show | a0001c0001t0002a0001c0001t0008a0002c0007t0008others(3): Show | a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0054 others(28): Show |
31 | 352 | 0.0881 | 44 | c.134 others(65): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80869841 | T | TACATATA others(37): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0282 | 1 | 77 | 0.0130 | 44 | c.313 others(63): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSL1_chr17_40116971_40141917 | 40140357 | C | CACACACC others(37): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0023 | 1 | 352 | 0.0028 | 44 | c.*59 others(55): Show |
MSL1 | ENSG00000188895.12 | transcript | ENST00000398532.9 | protein_coding | 3441 | chr17 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767828 | G | GGGGTGTG others(37): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 338 | 0.0030 | 44 | c.159 others(61): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 768042 | A | AGGAGGGG others(37): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0264 | 1 | 355 | 0.0028 | 44 | c.159 others(61): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 768042 | A | AGGGGGGG others(37): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG03471.hp1 |
a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0009 | 3 | 357 | 0.0084 | 44 | c.159 others(61): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16102930 | C | CATATATG others(37): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp2 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 others(77): Show |
80 | 241 | 0.3320 | 44 | c.*71 others(55): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 4950 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16102930 | C | CATATGTG others(37): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01168.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0015 a0001c0001t0001g0251 a0001c0001t0001g0254 others(4): Show |
7 | 168 | 0.0417 | 44 | c.*71 others(55): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 4950 | chr8 | TogoVar | |||||||
MSRA_chr8_10049292_10433891 | 10155000 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 227 | 0.0044 | 44 | c.143 others(63): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10417753 | G | GGTGTGTG others(37): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 284 | 0.0035 | 44 | c.544 others(63): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
MSRA_chr8_10049292_10433891 | 10417754 | T | TTGTGTGT others(37): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01358.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 a0001c0001t0003g0109 a0001c0001t0003g0117 others(2): Show |
5 | 10 | 0.5000 | 44 | c.544 others(63): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566717 | A | AGAAAGAA others(37): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 409 | 0.0024 | 44 | c.32- others(59): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566793 | A | AGAAGGAA others(37): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02155.hp1 NA19075.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0024 |
5 | 380 | 0.0132 | 44 | c.32- others(57): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566797 | A | AGAAGGAA others(37): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18967.hp2 NA18993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0098 |
5 | 379 | 0.0132 | 44 | c.32- others(57): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 63 | 0.0159 | 44 | c.191 others(63): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTARC2_chr1_220743322_220789815 | 220747846 | G | GGGGGGGG others(37): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 396 | 0.0025 | 44 | c.-68 others(53): Show |
MTARC2 | ENSG00000117791.16 | transcript | ENST00000366913.8 | protein_coding | 475 | chr1 | TogoVar | |||||||
MTBP_chr8_120440419_120528636 | 120501549 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 350 | 0.0029 | 44 | c.161 others(61): Show |
MTBP | ENSG00000172167.8 | transcript | ENST00000305949.6 | protein_coding | 14/21 | chr8 | TogoVar | |||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0004 | a0003c0004t0015 | a0003c0004t0015g0249 | 1 | 177 | 0.0056 | 44 | c.104 others(63): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250620 | G | GAAAAGAA others(37): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02015.hp2 HG02148.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0189 others(5): Show |
12 | 214 | 0.0561 | 44 | c.677 others(59): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 150932812 | G | GAAGGAGG others(37): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01261.hp1 HG02622.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0035 a0001c0001t0001g0115 a0001c0001t0001g0123 others(9): Show |
12 | 185 | 0.0649 | 44 | c.125 others(63): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150932816 | G | GAGGGAGG others(37): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 141 | 0.0071 | 44 | c.125 others(63): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994089 | G | GAAAGAAA others(37): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 202 | 0.0050 | 44 | c.212 others(65): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64429261 | A | AACATATA others(37): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01167.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0001g0068 others(27): Show |
30 | 142 | 0.2113 | 44 | c.126 others(61): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64429261 | A | AACATATA others(37): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0250 |
2 | 114 | 0.0175 | 44 | c.126 others(61): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTHFD2_chr2_74193615_74222565 | 74203911 | T | TTTAGTTT others(37): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18954.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0038 a0001c0001t0001g0203 a0001c0001t0019g0038 |
3 | 401 | 0.0075 | 44 | c.102 others(61): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTHFS_chr15_79838547_79902014 | 79840259 | T | TATATAAT others(37): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0024 a0002c0002t0006g0160 a0002c0002t0006g0165 |
4 | 378 | 0.0106 | 44 | c.*49 others(55): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 3287 | chr15 | TogoVar | |||||||
MTMR12_chr5_32222007_32317939 | 32228516 | A | AATATATA others(37): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0023 | a0001c0001t0017g0229 a0001c0001t0023g0271 |
2 | 362 | 0.0055 | 44 | c.*12 others(55): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 16/16 | 1261 | chr5 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(37): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0045 | 1 | 238 | 0.0042 | 44 | c.371 others(61): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(37): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03942.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0042 a0002c0003t0003g0049 |
2 | 239 | 0.0084 | 44 | c.371 others(61): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(37): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 NA19000.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0043 a0002c0003t0003g0055 a0002c0003t0003g0059 |
3 | 240 | 0.0125 | 44 | c.371 others(61): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195762713 | G | GGCACCGC others(37): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(150): Show |
a0001a0003a0005others(64): Show | a0001c0001a0001c0003a0001c0007others(95): Show | a0001c0001t0001a0001c0001t0016a0001c0003t0001others(96): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(149): Show |
153 | 235 | 0.6511 | 44 | c.143 others(62): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 13/24 | chr3 | TogoVar |