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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MT4_chr16_56560073_56573957 | 56566525 | GGAAGGAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(182): Show | 207 | 428 | 0.4836 | -8 | c.32- others(23): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MT4_chr16_56560073_56573957 | 56566700 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0181others(44): Show | 50 | 428 | 0.1168 | -8 | c.32- others(23): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MT4_chr16_56560073_56573957 | 56566819 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | NA18956.hp1 NA18962.hp2 NA18974.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009a0002c0002t0001g0115a0002c0002t0001g0142others(3): Show | 7 | 428 | 0.0164 | -8 | c.32- others(21): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MT4_chr16_56560073_56573957 | 56568213 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG02300.hp2 HG02735.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0296a0002c0002t0001g0010a0002c0002t0001g0104others(13): Show | 17 | 428 | 0.0397 | -8 | c.97+ others(21): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MTA1_chr14_105414827_105475729 | 105416855 | CTTATTTA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01258.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0081a0001c0001t0001g0089others(5): Show | 9 | 304 | 0.0296 | -8 | c.-31 others(19): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 2971 | chr14 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42563776 | ATTCCTTC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01099.hp1 HG01943.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0108a0001c0001t0002g0118others(14): Show | 17 | 312 | 0.0545 | -8 | c.-49 others(19): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 4855 | chr2 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42593951 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02622.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0284a0001c0001t0001g0285a0001c0001t0004g0275others(7): Show | 10 | 312 | 0.0321 | -8 | c.190 others(27): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42690856 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02615.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0248a0001c0001t0007g0049a0001c0001t0007g0072 | 3 | 312 | 0.0096 | -8 | c.892 others(25): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTA3_chr2_42563632_42761946 | 42724275 | AAAACACA others(1): Show |
A | intron_variant | MODIFIER | HG01993.hp2 HG02004.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0087a0001c0001t0001g0101a0001c0001t0001g0105others(6): Show | 9 | 312 | 0.0289 | -8 | c.175 others(27): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MTAP_chr9_21797636_21872081 | 21802985 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02074.hp2 HG02083.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0294a0001c0001t0002g0008a0001c0001t0002g0289others(16): Show | 19 | 382 | 0.0497 | -8 | c.33+ others(21): Show |
MTAP | ENSG00000099810.21 | transcript | ENST00000644715.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MTAP_chr9_21797636_21872081 | 21852660 | TTATATAC others(1): Show |
T | intron_variant | MODIFIER | HG02074.hp2 NA18940.hp1 NA18941.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0002g0264a0002c0002t0001g0227a0002c0002t0001g0241others(14): Show | 17 | 382 | 0.0445 | -8 | c.451 others(25): Show |
MTAP | ENSG00000099810.21 | transcript | ENST00000644715.2 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MTARC1_chr1_220781913_220824659 | 220823503 | TCTCTCTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(55): Show | 96 | 418 | 0.2297 | -8 | c.*10 others(21): Show |
MTARC1 | ENSG00000186205.14 | transcript | ENST00000366910.10 | protein_coding | 3845 | chr1 | TogoVar | ||||||
MTCL1_chr18_8700556_8837778 | 8710457 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(87): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0020others(38): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(53): Show | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0216others(85): Show | 90 | 336 | 0.2679 | -8 | c.105 others(27): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MTCL1_chr18_8700556_8837778 | 8725782 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01109.hp1 others(28): Show |
a0001a0002a0003others(14): Show | a0001c0003a0001c0116a0001c0174others(25): Show | a0001c0003t0003a0001c0116t0001a0001c0174t0003others(25): Show | a0001c0003t0003g0196a0001c0116t0001g0060a0001c0174t0003g0305others(28): Show | 31 | 336 | 0.0923 | -8 | c.143 others(27): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MTCL1_chr18_8700556_8837778 | 8726530 | AGTGCGCA others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG01975.hp1 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0003a0002c0002a0002c0004others(9): Show | a0001c0003t0004a0002c0002t0003a0002c0004t0001others(10): Show | a0001c0003t0004g0292a0002c0002t0003g0014a0002c0004t0001g0244others(10): Show | 13 | 336 | 0.0387 | -8 | c.143 others(27): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MTCL1_chr18_8700556_8837778 | 8776722 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(63): Show |
a0001a0002a0003others(18): Show | a0001c0174a0002c0002a0002c0004others(36): Show | a0001c0174t0003a0002c0002t0001a0002c0002t0003others(45): Show | a0001c0174t0003g0305a0002c0002t0001g0015a0002c0002t0003g0014others(63): Show | 66 | 336 | 0.1964 | -8 | c.143 others(27): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97682230 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01358.hp2 HG02165.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0024a0001c0001t0002g0293a0001c0001t0002g0296others(7): Show | 10 | 370 | 0.0270 | -8 | c.484 others(25): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97683045 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02970.hp1 HG03041.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0055others(7): Show | 10 | 370 | 0.0270 | -8 | c.484 others(25): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97708264 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(14): Show | a0001c0001t0001g0017a0001c0001t0001g0022a0001c0001t0001g0024others(70): Show | 73 | 370 | 0.1973 | -8 | c.127 others(27): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97708581 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02615.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0016a0001c0001t0018others(3): Show | a0001c0001t0005g0004a0001c0001t0005g0176a0001c0001t0016g0123others(5): Show | 8 | 370 | 0.0216 | -8 | c.127 others(27): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTERF1_chr7_91865929_91885702 | 91866782 | GAAGGAAG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02300.hp1 HG02976.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0003c0003t0011 | a0001c0001t0007g0011a0003c0003t0011g0016 | 5 | 440 | 0.0114 | -8 | c.*68 others(19): Show |
MTERF1 | ENSG00000127989.14 | transcript | ENST00000351870.8 | protein_coding | 4146 | chr7 | TogoVar | ||||||
MTERF2_chr12_106972277_106992146 | 106981507 | TTATGTAT others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015a0001c0001t0005g0057a0001c0001t0005g0058 | 6 | 456 | 0.0132 | -8 | c.-57 others(25): Show |
MTERF2 | ENSG00000120832.11 | transcript | ENST00000240050.9 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
MTFR1L_chr1_25814954_25837938 | 25819423 | TGTGTGTG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003a0001c0001t0004g0007 | 10 | 402 | 0.0249 | -8 | c.-69 others(17): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 530 | chr1 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65713439 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0001a0001c0001t0002g0039a0001c0001t0002g0042others(24): Show | 28 | 348 | 0.0805 | -8 | c.*43 others(19): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 2878 | chr8 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133390410 | CCACACAC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG00735.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0024others(39): Show | 57 | 428 | 0.1332 | -8 | c.-38 others(19): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3746 | chr10 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62180899 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01256.hp1 HG01256.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0004a0001c0001t0002g0038a0001c0002t0001g0138 | 7 | 412 | 0.0170 | -8 | c.-21 others(19): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 2128 | chr20 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62202438 | AAAACAAA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(70): Show |
a0001a0005a0008 | a0001c0001a0005c0006a0008c0015 | a0001c0001t0003a0001c0001t0012a0001c0001t0026others(8): Show | a0001c0001t0003g0001a0001c0001t0003g0009a0001c0001t0003g0022others(55): Show | 73 | 412 | 0.1772 | -8 | c.*13 others(19): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 7/7 | 1377 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
MTG2_chr20_62178028_62208568 | 62204337 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01168.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0095others(9): Show | 15 | 412 | 0.0364 | -8 | c.*32 others(19): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 770 | chr20 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62207051 | TTATATAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(92): Show |
a0001a0008a0010others(1): Show | a0001c0001a0001c0002a0008c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0194a0001c0001t0003g0001a0001c0001t0003g0009others(78): Show | 95 | 412 | 0.2306 | -8 | c.*59 others(19): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 3484 | chr20 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150903203 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01256.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0002g0097a0001c0001t0005g0104a0001c0002t0001g0033others(3): Show | 6 | 226 | 0.0266 | -8 | c.781 others(25): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 150916492 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01433.hp2 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0120a0001c0001t0010g0224others(4): Show | 7 | 226 | 0.0310 | -8 | c.893 others(25): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 8/27 | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150920939 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01981.hp2 HG02257.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0021a0001c0001t0001g0062a0001c0001t0001g0114others(17): Show | 20 | 226 | 0.0885 | -8 | c.985 others(25): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 150923509 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01981.hp2 HG02109.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0021a0001c0001t0001g0062a0001c0001t0001g0114others(21): Show | 24 | 226 | 0.1062 | -8 | c.108 others(27): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151039940 | ACATACAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0046a0001c0001t0001g0065others(100): Show | 103 | 226 | 0.4558 | -8 | c.284 others(27): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151046469 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00639.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0075a0001c0001t0003g0024a0001c0001t0005g0049others(6): Show | 9 | 226 | 0.0398 | -8 | c.284 others(27): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151046471 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012 | a0001c0001t0001g0021a0001c0001t0001g0046a0001c0001t0001g0117others(2): Show | 5 | 226 | 0.0221 | -8 | c.284 others(27): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151081498 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0039others(42): Show | 45 | 226 | 0.1991 | -8 | c.284 others(29): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151087250 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02615.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0035a0001c0001t0001g0060others(11): Show | 14 | 226 | 0.0620 | -8 | c.284 others(27): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1_chr14_64383353_64465025 | 64397136 | AAAATATA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG02523.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0189a0001c0001t0001g0208a0001c0001t0001g0234others(8): Show | 11 | 342 | 0.0322 | -8 | c.42- others(23): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTHFD1_chr14_64383353_64465025 | 64397184 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02622.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0006a0001c0001t0001g0202a0001c0001t0001g0267others(3): Show | 6 | 342 | 0.0175 | -8 | c.42- others(23): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTHFD2L_chr4_74153118_74308099 | 74187733 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0065a0001c0001t0002g0066a0001c0001t0002g0155 | 3 | 200 | 0.0150 | -8 | c.452 others(27): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MTHFD2_chr2_74193615_74222565 | 74194442 | ATTTTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0048a0001c0001t0008g0049a0001c0001t0008g0264others(1): Show | 6 | 414 | 0.0145 | -8 | c.-41 others(19): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 4172 | chr2 | TogoVar | ||||||
MTHFD2_chr2_74193615_74222565 | 74219213 | GTGTGTGT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG01081.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0004others(26): Show | 41 | 414 | 0.0990 | -8 | c.*49 others(19): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 1649 | chr2 | TogoVar | ||||||
MTHFR_chr1_11780723_11810964 | 11786602 | ATTTTTTT others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01074.hp1 others(13): Show |
a0001a0006 | a0001c0001a0001c0009a0001c0022others(1): Show | a0001c0001t0006a0001c0001t0053a0001c0009t0014others(2): Show | a0001c0001t0006g0013a0001c0001t0006g0025a0001c0001t0006g0061others(9): Show | 16 | 376 | 0.0426 | -8 | c.*40 others(19): Show |
MTHFR | ENSG00000177000.13 | transcript | ENST00000376590.9 | protein_coding | 12/12 | 4070 | chr1 | TogoVar | |||||
MTHFR_chr1_11780723_11810964 | 11808219 | GTGTGTGT others(1): Show |
G | upstream_gene_variant | MODIFIER | NA18612.hp1 NA19064.hp1 NA19064.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003 | a0001c0001t0001g0001a0002c0002t0001g0010a0002c0002t0003g0002 | 3 | 376 | 0.0080 | -8 | c.-23 others(19): Show |
MTHFR | ENSG00000177000.13 | transcript | ENST00000376590.9 | protein_coding | 2256 | chr1 | TogoVar | ||||||
MTHFR_chr1_11780723_11810964 | 11808227 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02572.hp2 others(8): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0003others(1): Show | a0001c0004t0009a0002c0002t0001a0003c0003t0002others(1): Show | a0001c0004t0009g0023a0001c0004t0009g0024a0001c0004t0009g0050others(6): Show | 11 | 376 | 0.0293 | -8 | c.-23 others(19): Show |
MTHFR | ENSG00000177000.13 | transcript | ENST00000376590.9 | protein_coding | 2264 | chr1 | TogoVar | ||||||
MTHFS_chr15_79838547_79902014 | 79840208 | TATAATAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00733.hp1 others(36): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0004a0001c0007t0004 | a0001c0001t0002g0002a0001c0001t0002g0254a0001c0001t0002g0268others(26): Show | 39 | 394 | 0.0990 | -8 | c.*49 others(19): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 3338 | chr15 | TogoVar | ||||||
MTHFS_chr15_79838547_79902014 | 79840220 | ATATAATA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01934.hp2 HG01975.hp2 HG02004.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0011a0001c0001t0003g0017others(19): Show | 30 | 394 | 0.0761 | -8 | c.*49 others(19): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 3326 | chr15 | TogoVar | ||||||
MTHFS_chr15_79838547_79902014 | 79883692 | CACCTTAC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(193): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0083a0001c0001t0001g0124a0001c0001t0001g0136others(166): Show | 196 | 394 | 0.4975 | -8 | c.379 others(25): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
MTHFS_chr15_79838547_79902014 | 79890207 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02486.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014 | a0001c0001t0001g0223a0001c0001t0001g0321a0001c0001t0001g0322others(5): Show | 8 | 394 | 0.0203 | -8 | c.118 others(23): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 1/2 | chr15 | TogoVar |