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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAPK11_chr22_50258713_50275380 | 50274657 | T | TCCACCTC others(21): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 428 | 0.0023 | 28 | c.-43 others(39): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4278 | chr22 | TogoVar | |||||||
MAPK14_chr6_36022808_36116236 | 36065507 | G | GGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 342 | 0.0029 | 28 | c.305 others(45): Show |
MAPK14 | ENSG00000112062.12 | transcript | ENST00000229794.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MAPK15_chr8_143711349_143727458 | 143711639 | A | ACCACAGC others(21): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(372): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0009others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(94): Show |
375 | 397 | 0.9446 | 28 | c.-47 others(39): Show |
MAPK15 | ENSG00000181085.15 | transcript | ENST00000338033.9 | protein_coding | 4709 | chr8 | TogoVar | |||||||
MAPK1_chr22_21754657_21872645 | 21813039 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0072 | 1 | 348 | 0.0029 | 28 | c.120 others(45): Show |
MAPK1 | ENSG00000100030.15 | transcript | ENST00000215832.11 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
MAPK1_chr22_21754657_21872645 | 21814854 | C | CAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG01516.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0244 |
2 | 348 | 0.0058 | 28 | c.120 others(45): Show |
MAPK1 | ENSG00000100030.15 | transcript | ENST00000215832.11 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
MAPK6_chr15_52014219_52072375 | 52016070 | G | GCGCGCGC others(21): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 356 | 0.0028 | 28 | c.-39 others(39): Show |
MAPK6 | ENSG00000069956.14 | transcript | ENST00000261845.7 | protein_coding | 3148 | chr15 | TogoVar | |||||||
MAPK8IP3_chr16_1701195_1775351 | 1736513 | T | TCCGTGTG others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(74): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0003others(14): Show | a0001c0001t0002g0285 a0001c0001t0003g0207 a0001c0003t0003g0006 others(72): Show |
77 | 330 | 0.2333 | 28 | c.603 others(45): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MAPK8_chr10_48301677_48444360 | 48324503 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01978.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0288 |
3 | 306 | 0.0098 | 28 | c.-50 others(47): Show |
MAPK8 | ENSG00000107643.17 | transcript | ENST00000374189.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAPKAPK2_chr1_206679905_206739281 | 206691482 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01943.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0248 a0001c0001t0001g0321 a0001c0001t0002g0148 others(3): Show |
6 | 382 | 0.0157 | 28 | c.279 others(45): Show |
MAPKAPK2 | ENSG00000162889.11 | transcript | ENST00000367103.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAPKAPK2_chr1_206679905_206739281 | 206691502 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0158 a0002c0003t0004g0159 |
2 | 382 | 0.0052 | 28 | c.279 others(45): Show |
MAPKAPK2 | ENSG00000162889.11 | transcript | ENST00000367103.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAPKAPK2_chr1_206679905_206739281 | 206691504 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0294 | 1 | 382 | 0.0026 | 28 | c.279 others(45): Show |
MAPKAPK2 | ENSG00000162889.11 | transcript | ENST00000367103.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAPKAPK3_chr3_50612151_50654291 | 50617119 | G | GGGGGGGT others(21): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 326 | 0.0031 | 28 | c.-17 others(37): Show |
MAPKAPK3 | ENSG00000114738.11 | transcript | ENST00000621469.5 | protein_coding | 31 | chr3 | TogoVar | |||||||
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0079 | 1 | 328 | 0.0031 | 28 | c.114 others(47): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 | 1 | 328 | 0.0031 | 28 | c.114 others(47): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0220 a0002c0002t0002g0221 |
2 | 328 | 0.0061 | 28 | c.114 others(47): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45941680 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 253 | 0.0040 | 28 | c.-17 others(47): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45941689 | T | TCCTTCCC others(21): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01934.hp1 HG02293.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0005others(1): Show | a0001c0001t0001a0002c0003t0002a0004c0005t0007others(1): Show | a0001c0001t0001g0237 a0001c0001t0001g0249 a0002c0003t0002g0103 others(2): Show |
5 | 253 | 0.0198 | 28 | c.-17 others(47): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45941693 | T | TCCCTCCT others(21): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 253 | 0.0040 | 28 | c.-17 others(47): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MARCHF10_chr17_62696314_62813314 | 62723559 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG02015.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0075 a0001c0001t0001g0080 others(1): Show |
4 | 280 | 0.0143 | 28 | c.210 others(45): Show |
MARCHF10 | ENSG00000173838.12 | transcript | ENST00000311269.10 | protein_coding | 7/10 | chr17 | TogoVar | |||||||
MARCHF11_chr5_16062139_16184791 | 16166956 | G | GTACAACG others(21): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02559.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0007t0001g0291 |
3 | 298 | 0.0101 | 28 | c.693 others(47): Show |
MARCHF11 | ENSG00000183654.9 | transcript | ENST00000332432.9 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163733197 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 102 | 0.0098 | 28 | c.112 others(47): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164176970 | C | CCATATAT others(21): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 1 | 102 | 0.0098 | 28 | c.-32 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164220520 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0028 | 1 | 102 | 0.0098 | 28 | c.-32 others(51): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164220606 | A | ATATGCTA others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02027.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0004g0056 others(18): Show |
21 | 102 | 0.2059 | 28 | c.-32 others(51): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164220667 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02258.hp1 HG03516.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0007a0002c0003t0001others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0064 a0001c0001t0007g0051 others(3): Show |
6 | 102 | 0.0588 | 28 | c.-32 others(51): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164220667 | C | CTATATGT others(21): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19058.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0002 | a0001c0002t0002g0023 a0002c0004t0002g0065 |
2 | 102 | 0.0196 | 28 | c.-32 others(51): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164340405 | T | TTATATAC others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02293.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0009t0012 | a0001c0002t0002g0080 a0001c0009t0012g0071 |
2 | 102 | 0.0196 | 28 | c.-32 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164340405 | T | TTTTATAT others(21): Show |
intron_variant | MODIFIER | NA18963.hp1 NA19009.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0003a0002c0004t0003 | a0001c0002t0003g0082 a0002c0004t0003g0077 |
2 | 102 | 0.0196 | 28 | c.-32 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126866880 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp1 others(19): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0118 others(19): Show |
22 | 296 | 0.0743 | 28 | c.*37 others(39): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 833 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126866886 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0238 | 1 | 296 | 0.0034 | 28 | c.*37 others(39): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 827 | chr5 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216336742 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0214 | 1 | 330 | 0.0030 | 28 | c.516 others(47): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216354891 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18962.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0155 a0001c0002t0005g0256 |
2 | 330 | 0.0061 | 28 | c.516 others(47): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARCHF7_chr2_159707506_159776027 | 159764255 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0065 | 1 | 364 | 0.0028 | 28 | c.200 others(45): Show |
MARCHF7 | ENSG00000136536.15 | transcript | ENST00000409175.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986586 | G | GAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 394 | 0.0025 | 28 | c.106 others(47): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986652 | A | AGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0237 |
2 | 394 | 0.0051 | 28 | c.106 others(47): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986652 | A | AGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02015.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0217 a0001c0010t0001g0246 |
2 | 394 | 0.0051 | 28 | c.106 others(47): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986672 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 394 | 0.0025 | 28 | c.106 others(47): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103382182 | A | AGAAGGAA others(21): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01169.hp1 HG02027.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0051 others(8): Show |
11 | 348 | 0.0316 | 28 | c.-38 others(39): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 3232 | chr14 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103382217 | A | AGGATGGA others(21): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(27): Show |
30 | 348 | 0.0862 | 28 | c.-38 others(39): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 3197 | chr14 | TogoVar | |||||||
MAS1_chr6_159885988_159922447 | 159920228 | T | TTATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0016 | 1 | 348 | 0.0029 | 28 | c.*12 others(41): Show |
MAS1 | ENSG00000130368.7 | transcript | ENST00000674077.2 | protein_coding | 2782 | chr6 | TogoVar | |||||||
MAST1_chr19_12833515_12879952 | 12861680 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02572.hp1 HG02895.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0020 a0001c0003t0001g0027 a0001c0009t0001g0031 |
3 | 316 | 0.0095 | 28 | c.136 others(47): Show |
MAST1 | ENSG00000105613.10 | transcript | ENST00000251472.9 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45888663 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 288 | 0.0035 | 28 | c.500 others(45): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66837023 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0079 | 1 | 108 | 0.0093 | 28 | c.642 others(47): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
MAST4_chr5_66591393_67174593 | 67078739 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02622.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0009a0001c0002t0003a0001c0002t0024others(1): Show | a0001c0001t0009g0042 a0001c0002t0003g0039 a0001c0002t0024g0049 others(1): Show |
4 | 108 | 0.0370 | 28 | c.764 others(47): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97889459 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19011.hp2 |
a0001a0003 | a0001c0009a0003c0003 | a0001c0009t0001a0003c0003t0002 | a0001c0009t0001g0060 a0003c0003t0002g0097 |
2 | 318 | 0.0063 | 28 | c.142 others(45): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988189 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0019 | a0002c0019t0003 | a0002c0019t0003g0214 | 1 | 318 | 0.0031 | 28 | c.108 others(47): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 98037392 | G | GTATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01516.hp2 HG02015.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0037 | a0001c0002t0001a0002c0037t0001 | a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0222 others(2): Show |
5 | 318 | 0.0157 | 28 | c.*16 others(39): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 669 | chr8 | TogoVar | |||||||
MATN3_chr2_19987052_20017668 | 20010067 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03486.hp2 NA18940.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 others(2): Show |
5 | 432 | 0.0116 | 28 | c.223 others(45): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
MATN4_chr20_45288450_45313299 | 45305805 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02080.hp2 HG02083.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0002c0003t0001a0003c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0097 others(5): Show |
12 | 422 | 0.0284 | 28 | c.-34 others(43): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
MB21D2_chr3_192791815_192922856 | 192899821 | G | GTGTGTGG others(21): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 | 1 | 298 | 0.0034 | 28 | c.211 others(47): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar |