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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAPK8IP2_chr22_50595793_50618978 | 50606783 | TGGGGACC others(13): Show |
T | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0073 | 1 | 436 | 0.0023 | -20 | c.223 others(35): Show |
MAPK8IP2 | ENSG00000008735.14 | transcript | ENST00000329492.6 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
MAPK8IP3_chr16_1701195_1775351 | 1737186 | GTCCGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01496.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0084 a0001c0003t0003g0091 a0001c0003t0003g0126 |
3 | 330 | 0.0091 | -20 | c.603 others(37): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MAPK8IP3_chr16_1701195_1775351 | 1738755 | CCGTGTGA others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG04184.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 a0002c0002t0001g0187 |
2 | 330 | 0.0061 | -20 | c.603 others(37): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MAPK8IP3_chr16_1701195_1775351 | 1759244 | CGGGCAGA others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0004others(10): Show | a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0307 others(40): Show |
44 | 330 | 0.1333 | -20 | c.124 others(37): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MAPK8_chr10_48301677_48444360 | 48356841 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0237 a0001c0001t0003g0097 a0001c0001t0003g0100 others(2): Show |
5 | 306 | 0.0163 | -20 | c.-49 others(39): Show |
MAPK8 | ENSG00000107643.17 | transcript | ENST00000374189.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAPK8_chr10_48301677_48444360 | 48413815 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 306 | 0.0033 | -20 | c.450 others(37): Show |
MAPK8 | ENSG00000107643.17 | transcript | ENST00000374189.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAPKAP1_chr9_125432394_125712208 | 125693743 | ATATATAC others(13): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 300 | 0.0033 | -20 | c.-70 others(39): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
MAPT_chr17_45889554_46033334 | 45956548 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 253 | 0.0040 | -20 | c.-17 others(37): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45956582 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0185 | 1 | 253 | 0.0040 | -20 | c.-17 others(37): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163620598 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02897.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0013a0001c0005t0011a0001c0005t0016others(1): Show | a0001c0001t0013g0018 a0001c0005t0011g0069 a0001c0005t0016g0048 others(1): Show |
4 | 102 | 0.0392 | -20 | c.163 others(37): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163620600 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0058 | 1 | 102 | 0.0098 | -20 | c.163 others(37): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163733207 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02293.hp1 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0044 a0001c0002t0002g0020 a0002c0003t0001g0006 others(1): Show |
4 | 102 | 0.0392 | -20 | c.112 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163811244 | TTTTAGTG others(13): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01071.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0024 others(29): Show |
32 | 102 | 0.3137 | -20 | c.111 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163847549 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0006t0001 | a0001c0001t0005g0022 a0001c0006t0001g0041 |
2 | 102 | 0.0196 | -20 | c.111 others(37): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163886304 | CATAGATA others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0003 | a0001c0001t0013g0015 a0001c0002t0003g0016 |
2 | 102 | 0.0196 | -20 | c.-38 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163975180 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG02735.hp1 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0054 a0001c0002t0002g0094 a0001c0002t0003g0004 |
3 | 102 | 0.0294 | -20 | c.-39 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164034068 | CAGATAGA others(13): Show |
C | intron_variant | MODIFIER | NA19009.hp2 NA19058.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0003 | a0002c0003t0001g0005 a0002c0004t0003g0077 |
2 | 102 | 0.0196 | -20 | c.-24 others(41): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 2/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164176968 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0074 a0001c0001t0006g0008 |
2 | 102 | 0.0196 | -20 | c.-32 others(41): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164199665 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02293.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0024 a0001c0001t0006g0053 a0001c0001t0006g0059 others(8): Show |
11 | 102 | 0.1078 | -20 | c.-32 others(41): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164199667 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02132.hp1 HG02165.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0013a0001c0002t0002others(3): Show | a0001c0001t0004g0056 a0001c0001t0013g0015 a0001c0002t0002g0054 others(3): Show |
6 | 102 | 0.0588 | -20 | c.-32 others(41): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164217021 | GAATTAGA others(13): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG02258.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0024others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0036 others(12): Show |
15 | 102 | 0.1471 | -20 | c.-32 others(43): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164346604 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG02027.hp1 NA18952.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0002 | a0001c0001t0004g0056 a0001c0001t0005g0021 a0001c0002t0002g0023 |
3 | 102 | 0.0294 | -20 | c.-32 others(41): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126966905 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0075 | 1 | 296 | 0.0034 | -20 | c.-56 others(39): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 127023733 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0279 | 1 | 296 | 0.0034 | -20 | c.-57 others(37): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216320607 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG03098.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0059 a0001c0001t0004g0173 a0001c0001t0006g0192 others(1): Show |
4 | 330 | 0.0121 | -20 | c.517 others(39): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216354891 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01071.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0004g0185 a0001c0001t0006g0179 a0001c0001t0006g0191 others(15): Show |
18 | 330 | 0.0546 | -20 | c.516 others(39): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARCHF5_chr10_92286167_92358964 | 92331869 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0002g0002 a0001c0001t0002g0076 a0001c0001t0002g0077 others(167): Show |
173 | 306 | 0.5654 | -20 | c.239 others(37): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MARCHF5_chr10_92286167_92358964 | 92347463 | CAGATAGA others(13): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02071.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0029 | a0001c0001t0002g0129 a0001c0001t0017g0039 a0001c0001t0029g0066 |
3 | 306 | 0.0098 | -20 | c.370 others(37): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MARCHF5_chr10_92286167_92358964 | 92347507 | TAGATAGA others(13): Show |
T | intron_variant | MODIFIER | HG02040.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 a0001c0001t0002g0132 |
2 | 306 | 0.0065 | -20 | c.370 others(37): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 3/5 | chr10 | TogoVar | |||||||
MARCHF5_chr10_92286167_92358964 | 92347511 | TAGATAGA others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0112 | 1 | 306 | 0.0033 | -20 | c.370 others(37): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 3/5 | chr10 | TogoVar | |||||||
MARCHF6_chr5_10348695_10445388 | 10356343 | ATTTATTT others(13): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0181 | a0001c0001t0181g0167 | 1 | 284 | 0.0035 | -20 | c.19+ others(35): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10404031 | CTTTATTT others(13): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0282 | 1 | 284 | 0.0035 | -20 | c.133 others(37): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10430283 | AGGTTTTT others(13): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0179 | 1 | 284 | 0.0035 | -20 | c.264 others(37): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10435631 | CTATATAA others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01981.hp1 HG02027.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0082a0001c0001t0083a0001c0001t0092others(1): Show | a0001c0001t0082g0025 a0001c0001t0083g0029 a0001c0001t0092g0014 others(1): Show |
4 | 284 | 0.0141 | -20 | c.*19 others(31): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1954 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MARCHF6_chr5_10348695_10445388 | 10435639 | CTATATAT others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0071 | 1 | 284 | 0.0035 | -20 | c.*19 others(31): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1995 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MARCHF7_chr2_159707506_159776027 | 159708561 | ATTTATTT others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0275 | 1 | 364 | 0.0028 | -20 | c.-41 others(31): Show |
MARCHF7 | ENSG00000136536.15 | transcript | ENST00000409175.6 | protein_coding | 3944 | chr2 | TogoVar | |||||||
MARCHF7_chr2_159707506_159776027 | 159726218 | GGTTTTGT others(13): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01261.hp2 HG02257.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0002a0001c0004t0005a0001c0004t0008others(2): Show | a0001c0001t0002g0323 a0001c0004t0005g0028 a0001c0004t0005g0212 others(15): Show |
20 | 364 | 0.0550 | -20 | c.-14 others(37): Show |
MARCHF7 | ENSG00000136536.15 | transcript | ENST00000409175.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCHF9_chr12_57750103_57765411 | 57750153 | CAATAAAT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 358 | 0.0056 | -20 | c.-53 others(31): Show |
MARCHF9 | ENSG00000139266.6 | transcript | ENST00000266643.6 | protein_coding | 4949 | chr12 | TogoVar | |||||||
MARCKS_chr6_113852345_113868475 | 113863789 | CATATATA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0071 | a0001c0001t0043g0015 a0001c0001t0071g0004 |
3 | 442 | 0.0068 | -20 | c.*32 others(31): Show |
MARCKS | ENSG00000277443.3 | transcript | ENST00000612661.2 | protein_coding | 315 | chr6 | TogoVar | |||||||
MARCO_chr2_118937194_118999660 | 118947600 | CCCTGTTG others(13): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp2 HG02055.hp1 others(23): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0039 a0002c0002t0001g0032 a0002c0002t0001g0033 others(23): Show |
26 | 394 | 0.0660 | -20 | c.97+ others(35): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986652 | AGAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01975.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0077 a0001c0001t0001g0111 a0001c0001t0001g0113 others(8): Show |
11 | 394 | 0.0279 | -20 | c.106 others(39): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986668 | GGAAGGAA others(13): Show |
G | intron_variant | MODIFIER | HG01258.hp2 HG02738.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0153 a0002c0002t0001g0190 |
2 | 394 | 0.0051 | -20 | c.106 others(39): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986672 | GGAAAGAA others(13): Show |
G | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 394 | 0.0025 | -20 | c.106 others(39): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARK2_chr11_63834110_63916020 | 63856768 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0106 a0001c0001t0001g0111 others(1): Show |
4 | 232 | 0.0172 | -20 | c.54+ others(37): Show |
MARK2 | ENSG00000072518.23 | transcript | ENST00000402010.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MARVELD3_chr16_71621184_71641465 | 71623209 | CAAAAAAA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp2 HG03490.hp2 NA19086.hp1 |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0002c0011t0001 | a0001c0001t0001g0007 a0001c0001t0001g0076 a0002c0011t0001g0119 |
3 | 384 | 0.0078 | -20 | c.-30 others(31): Show |
MARVELD3 | ENSG00000140832.11 | transcript | ENST00000268485.8 | protein_coding | 2974 | chr16 | TogoVar | |||||||
MARVELD3_chr16_71621184_71641465 | 71625726 | TGGTGGAT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp1 HG02886.hp1 HG02895.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0017 a0002c0002t0003g0098 |
5 | 384 | 0.0130 | -20 | c.-50 others(29): Show |
MARVELD3 | ENSG00000140832.11 | transcript | ENST00000268485.8 | protein_coding | 457 | chr16 | TogoVar | |||||||
MASP2_chr1_11021523_11052239 | 11033949 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02630.hp2 others(5): Show |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0256 a0002c0006t0002g0258 a0002c0006t0002g0259 others(5): Show |
8 | 346 | 0.0231 | -20 | c.108 others(37): Show |
MASP2 | ENSG00000009724.18 | transcript | ENST00000400897.8 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
MASP2_chr1_11021523_11052239 | 11042396 | TTGGATGG others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(169): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(156): Show |
172 | 346 | 0.4971 | -20 | c.889 others(35): Show |
MASP2 | ENSG00000009724.18 | transcript | ENST00000400897.8 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
MAST3_chr19_18092778_18156687 | 18104179 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01074.hp1 others(9): Show |
a0001a0003 | a0001c0002a0003c0004a0003c0009 | a0001c0002t0002a0003c0004t0001a0003c0004t0005others(3): Show | a0001c0002t0002g0023 a0003c0004t0001g0025 a0003c0004t0005g0001 others(8): Show |
12 | 296 | 0.0405 | -20 | c.40- others(35): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66648034 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0037 | 1 | 108 | 0.0093 | -20 | c.363 others(39): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |