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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAPKAPK2_chr1_206679905_206739281 | 206706845 | CGGGGCTA others(38): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0341 | 1 | 377 | 0.0027 | -45 | c.279 others(64): Show |
MAPKAPK2 | ENSG00000162889.11 | transcript | ENST00000367103.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10435665 | ATATATAT others(38): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0126 | 1 | 278 | 0.0036 | -45 | c.*19 others(56): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1983 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493457 | TTATAATA others(38): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 |
3 | 278 | 0.0108 | -45 | c.770 others(62): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(38): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 49 | 0.0204 | -45 | c.212 others(64): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148102664 | TACACACA others(38): Show |
T | intron_variant | MODIFIER | HG01261.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0008 a0001c0001t0019g0009 |
2 | 109 | 0.0183 | -45 | c.-92 others(66): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBLAC1_chr7_100121967_100133495 | 100131234 | TTTTTCTT others(38): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02257.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
13 | 22 | 0.5909 | -45 | c.*30 others(56): Show |
MBLAC1 | ENSG00000214309.5 | transcript | ENST00000398075.4 | protein_coding | 2740 | chr7 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83263745 | CAACATAA others(38): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02735.hp1 HG03017.hp2 others(3): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0004a0001c0002t0005a0001c0002t0011others(2): Show | a0001c0002t0004g0146 a0001c0002t0005g0215 a0001c0002t0005g0218 others(3): Show |
6 | 83 | 0.0723 | -45 | c.705 others(64): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169378474 | CAAGAAAG others(38): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 141 | 0.0071 | -45 | c.375 others(62): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151081299 | CTCCCTTC others(38): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01192.hp2 HG01346.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0111 a0001c0001t0002g0087 a0001c0001t0002g0158 others(11): Show |
14 | 23 | 0.6087 | -45 | c.-47 others(56): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4364 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151368604 | TATTTTAT others(38): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0002a0001c0007a0001c0018 | a0001c0002t0007a0001c0007t0007a0001c0018t0009 | a0001c0002t0007g0168 a0001c0007t0007g0033 a0001c0018t0009g0028 |
3 | 248 | 0.0121 | -45 | c.355 others(62): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368609 | TATTTTAT others(38): Show |
T | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0107 | 1 | 278 | 0.0036 | -45 | c.355 others(62): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368632 | TTCATTTC others(38): Show |
T | intron_variant | MODIFIER | HG02132.hp1 NA18952.hp2 |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0028a0002c0003t0003 | a0001c0008t0028g0014 a0002c0003t0003g0270 |
2 | 278 | 0.0072 | -45 | c.355 others(62): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368644 | CATTTCAT others(38): Show |
C | intron_variant | MODIFIER | NA19077.hp2 | a0009 | a0009c0034 | a0009c0034t0001 | a0009c0034t0001g0198 | 1 | 277 | 0.0036 | -45 | c.355 others(62): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151368677 | GTCATTTC others(38): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00741.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0003a0001c0001t0047a0001c0002t0002others(10): Show | a0001c0001t0003g0204 a0001c0001t0047g0206 a0001c0002t0002g0066 others(14): Show |
17 | 157 | 0.1083 | -45 | c.355 others(62): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED13L_chr12_115953576_116282693 | 116185652 | GCTTTTCT others(38): Show |
G | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 6 | 0.1667 | -45 | c.310 others(64): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | TogoVar | |||||||
MED16_chr19_862963_898187 | 868983 | CACCACGA others(38): Show |
C | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 54 | 0.0185 | -45 | c.231 others(60): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3546595 | GTGGGCTG others(38): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03195.hp1 |
a0021a0081 | a0021c0072a0081c0064 | a0021c0072t0013a0081c0064t0035 | a0021c0072t0013g0252 a0081c0064t0035g0001 |
2 | 290 | 0.0069 | -45 | c.482 others(64): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3546612 | GTGCCAGG others(38): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0070 | a0070c0054 | a0070c0054t0049 | a0070c0054t0049g0007 | 1 | 290 | 0.0034 | -45 | c.482 others(64): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3612271 | CGCTAATT others(38): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0086 | a0086c0098 | a0086c0098t0003 | a0086c0098t0003g0251 | 1 | 285 | 0.0035 | -45 | c.-10 others(56): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 764 | chr1 | TogoVar | |||||||
MELTF_chr3_196996740_197034817 | 197005817 | GGGCCAGA others(38): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0055a0001c0002t0056 | a0001c0002t0055g0248 a0001c0002t0056g0247 |
2 | 418 | 0.0048 | -45 | c.193 others(62): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129550326 | GCCCAGCA others(38): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG04115.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0006a0004c0004t0010 | a0001c0001t0006g0087 a0004c0004t0010g0187 a0004c0004t0010g0188 |
3 | 192 | 0.0156 | -45 | c.125 others(64): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129550338 | CATGTTTC others(38): Show |
C | intron_variant | MODIFIER | HG00741.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0078 a0002c0002t0004g0079 |
2 | 192 | 0.0104 | -45 | c.125 others(64): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MIA2_chr14_39228915_39355694 | 39284137 | GTCAGGGA others(38): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0133 | 1 | 366 | 0.0027 | -45 | c.213 others(64): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MIB1_chr18_21735792_21875953 | 21738806 | CAAAAAAA others(38): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02809.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0104 a0001c0001t0008g0106 a0001c0001t0008g0107 others(1): Show |
4 | 6 | 0.6667 | -45 | c.-27 others(56): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 1985 | chr18 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876752 | GGTTAAGG others(38): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0062 | a0002c0062t0015 | a0002c0062t0015g0078 | 1 | 272 | 0.0037 | -45 | c.224 others(64): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876829 | TGGAGGTT others(38): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0062 | a0002c0062t0015 | a0002c0062t0015g0078 | 1 | 199 | 0.0050 | -45 | c.224 others(64): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MIX23_chr3_122354591_122388231 | 122380785 | AAGGGGGA others(38): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 | 1 | 418 | 0.0024 | -45 | c.51+ others(60): Show |
MIX23 | ENSG00000160124.9 | transcript | ENST00000291458.9 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
MKRN1_chr7_140448033_140484505 | 140474004 | AAAAAGAA others(38): Show |
A | intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 356 | 0.0028 | -45 | c.186 others(62): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
MLLT10_chr10_21529232_21748630 | 21717810 | TCTCCTTC others(38): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0086 | 1 | 44 | 0.0227 | -45 | c.187 others(64): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MLXIPL_chr7_73588202_73629522 | 73609596 | AACAAGGA others(38): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02965.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006 a0003c0004t0001g0234 a0003c0004t0001g0235 others(5): Show |
8 | 274 | 0.0292 | -45 | c.401 others(62): Show |
MLXIPL | ENSG00000009950.16 | transcript | ENST00000313375.8 | protein_coding | 2/16 | chr7 | TogoVar | |||||||
MOG_chr6_29652092_29677365 | 29676209 | AAAGACAG others(38): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0127 | 1 | 438 | 0.0023 | -45 | c.*50 others(56): Show |
MOG | ENSG00000204655.12 | transcript | ENST00000376917.8 | protein_coding | 3845 | chr6 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43495980 | GTGGAGAT others(38): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0062 |
2 | 242 | 0.0083 | -45 | c.633 others(62): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRM3_chr17_777353_797509 | 790903 | CCTGTGCC others(38): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00597.hp2 others(128): Show |
a0001a0003a0007 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0006t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(23): Show |
131 | 438 | 0.2991 | -45 | c.728 others(60): Show |
MRM3 | ENSG00000171861.11 | transcript | ENST00000304478.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MRPS23_chr17_57829781_57855044 | 57846260 | GCCACCGC others(38): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01106.hp1 HG01192.hp2 others(26): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0015a0001c0001t0016others(11): Show | a0001c0001t0008g0021 a0001c0001t0008g0053 a0001c0001t0008g0226 others(19): Show |
29 | 394 | 0.0736 | -45 | c.215 others(62): Show |
MRPS23 | ENSG00000181610.13 | transcript | ENST00000313608.13 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80691987 | ATATGTTT others(38): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02683.hp1 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0005a0003c0003t0003 | a0001c0002t0005g0036 a0003c0003t0003g0198 a0003c0003t0003g0204 |
3 | 348 | 0.0086 | -45 | c.134 others(66): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 770621 | CGCCGCCT others(38): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp2 others(11): Show |
a0001a0006a0007others(2): Show | a0001c0001a0006c0008a0007c0007others(2): Show | a0001c0001t0001a0006c0008t0001a0007c0007t0001others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0119 others(8): Show |
14 | 386 | 0.0363 | -45 | c.*18 others(56): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 1760 | chr16 | TogoVar | |||||||
MT1E_chr16_56620781_56632112 | 56631568 | GTAGTCCT others(38): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02895.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 4 | 456 | 0.0088 | -45 | c.*47 others(56): Show |
MT1E | ENSG00000169715.15 | transcript | ENST00000330439.7 | protein_coding | 4457 | chr16 | TogoVar | |||||||
MT1M_chr16_56627659_56638981 | 56631568 | GTAGTCCT others(38): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02895.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 4 | 444 | 0.0090 | -45 | c.-11 others(56): Show |
MT1M | ENSG00000205364.4 | transcript | ENST00000379818.4 | protein_coding | 1090 | chr16 | TogoVar | |||||||
MT4_chr16_56560073_56573957 | 56566774 | GAAAGAAA others(38): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 3 | 426 | 0.0070 | -45 | c.32- others(58): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97682242 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | NA18941.hp1 NA18949.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0030 | a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0030g0151 |
3 | 355 | 0.0085 | -45 | c.484 others(62): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97682244 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA18947.hp2 NA18974.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0071a0001c0001t0072others(1): Show | a0001c0001t0011g0142 a0001c0001t0011g0144 a0001c0001t0011g0145 others(4): Show |
7 | 318 | 0.0220 | -45 | c.484 others(62): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97682248 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0179 | 1 | 366 | 0.0027 | -45 | c.484 others(62): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTFP1_chr22_30420768_30434054 | 30433459 | CTTCAAAG others(38): Show |
C | downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 442 | 0.0023 | -45 | c.*49 others(56): Show |
MTFP1 | ENSG00000242114.6 | transcript | ENST00000266263.10 | protein_coding | 4406 | chr22 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 150865720 | TCCCGCCG others(38): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0096 | 1 | 224 | 0.0045 | -45 | c.-93 others(52): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 1/28 | 49 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MUC21_chr6_30978718_30994903 | 30986486 | TAGCCACC others(38): Show |
T | conservative_inframe_deletion | MODERATE | HG03516.hp2 | a0016 | a0016c0021 | a0016c0021t0015 | a0016c0021t0015g0006 | 1 | 448 | 0.0022 | -45 | c.337 others(52): Show |
p.Thr others(13): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2/3 | 578/3651 | 337/1701 | 113/566 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195775382 | GTACCTTC others(38): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0037 | a0037c0032 | a0037c0032t0001 | a0037c0032t0001g0188 | 1 | 188 | 0.0053 | -45 | c.129 others(66): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775636 | CATACCTT others(38): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02004.hp2 HG03688.hp2 others(1): Show |
a0001a0005a0022others(1): Show | a0001c0001a0005c0014a0022c0020others(1): Show | a0001c0001t0001a0005c0014t0001a0022c0020t0001others(1): Show | a0001c0001t0001g0071 a0005c0014t0001g0081 a0022c0020t0001g0028 others(1): Show |
4 | 248 | 0.0161 | -45 | c.129 others(66): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775785 | CCTTACCT others(38): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02004.hp1 HG02056.hp1 others(7): Show |
a0001a0012a0022others(1): Show | a0001c0001a0001c0028a0012c0013others(2): Show | a0001c0001t0001a0001c0028t0001a0012c0013t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0088 others(7): Show |
10 | 224 | 0.0446 | -45 | c.129 others(66): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776280 | CCATACCT others(38): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01069.hp1 others(9): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0007a0001c0019others(5): Show | a0001c0001t0001a0001c0007t0002a0001c0019t0002others(5): Show | a0001c0001t0001g0114 a0001c0007t0002g0020 a0001c0007t0002g0038 others(9): Show |
12 | 215 | 0.0558 | -45 | c.129 others(66): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776670 | CCATACCT others(38): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0022 | a0022c0020 | a0022c0020t0001 | a0022c0020t0001g0028 | 1 | 238 | 0.0042 | -45 | c.129 others(66): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar |