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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAPKBP1_chr15_41769484_41832855 | 41786777 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0021 | a0021c0014 | a0021c0014t0006 | a0021c0014t0006g0291 | 1 | 328 | 0.0031 | 30 | c.114 others(49): Show |
MAPKBP1 | ENSG00000137802.14 | transcript | ENST00000457542.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAPRE1_chr20_32814954_32855405 | 32854691 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 386 | 0.0026 | 30 | c.*59 others(41): Show |
MAPRE1 | ENSG00000101367.9 | transcript | ENST00000375571.6 | protein_coding | 4287 | chr20 | TogoVar | |||||||
MAPT_chr17_45889554_46033334 | 46017440 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0009 | a0009c0011 | a0009c0011t0008 | a0009c0011t0008g0097 | 1 | 253 | 0.0040 | 30 | c.217 others(49): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MARCHF10_chr17_62696314_62813314 | 62723559 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02717.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0053 others(2): Show |
5 | 280 | 0.0179 | 30 | c.210 others(47): Show |
MARCHF10 | ENSG00000173838.12 | transcript | ENST00000311269.10 | protein_coding | 7/10 | chr17 | TogoVar | |||||||
MARCHF10_chr17_62696314_62813314 | 62812459 | G | GCCAGTGT others(23): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 280 | 0.0036 | 30 | c.-44 others(41): Show |
MARCHF10 | ENSG00000173838.12 | transcript | ENST00000311269.10 | protein_coding | 4146 | chr17 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163643327 | C | CAAAAATA others(23): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 102 | 0.0098 | 30 | c.163 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163733193 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0036 a0001c0001t0022g0040 |
2 | 102 | 0.0196 | 30 | c.112 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163733209 | A | ACACATGT others(23): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18952.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0002 | a0001c0001t0010g0063 a0001c0002t0002g0094 |
2 | 102 | 0.0196 | 30 | c.112 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163866466 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0075 | 1 | 102 | 0.0098 | 30 | c.-38 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164220667 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0039 | 1 | 102 | 0.0098 | 30 | c.-32 others(53): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164325333 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0051 | 1 | 102 | 0.0098 | 30 | c.-32 others(51): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164340405 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 | 1 | 102 | 0.0098 | 30 | c.-32 others(51): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126866880 | C | CAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01361.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0163 a0001c0001t0002g0071 a0001c0001t0002g0166 others(14): Show |
17 | 296 | 0.0574 | 30 | c.*37 others(41): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 833 | chr5 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103452471 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 348 | 0.0029 | 30 | c.412 others(45): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103467674 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 NA18939.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0051 a0001c0001t0003g0041 a0001c0001t0003g0071 |
3 | 348 | 0.0086 | 30 | c.111 others(47): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103481757 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 348 | 0.0029 | 30 | c.158 others(49): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45888663 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 288 | 0.0035 | 30 | c.500 others(47): 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(23): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0029 | 1 | 108 | 0.0093 | 30 | c.642 others(49): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
MAST4_chr5_66591393_67174593 | 67057610 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0001 | 1 | 108 | 0.0093 | 30 | c.763 others(47): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67069287 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0081 | 1 | 108 | 0.0093 | 30 | c.763 others(49): 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(23): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18964.hp2 NA18970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0002g0304 a0001c0002t0001g0087 a0001c0004t0001g0234 others(1): Show |
4 | 318 | 0.0126 | 30 | c.142 others(47): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97889472 | T | TAATATAT others(23): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0068 | 1 | 318 | 0.0031 | 30 | c.142 others(47): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988171 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0012 | a0012c0061 | a0012c0061t0002 | a0012c0061t0002g0018 | 1 | 318 | 0.0031 | 30 | c.108 others(49): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 97988171 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0077 | a0002c0077t0002 | a0002c0077t0002g0118 | 1 | 318 | 0.0031 | 30 | c.108 others(49): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 98037386 | G | GTGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0015 | a0003c0015t0002 | a0003c0015t0002g0126 | 1 | 318 | 0.0031 | 30 | c.*16 others(41): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 663 | chr8 | TogoVar | |||||||
MATN2_chr8_97864064_98041724 | 98037392 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02129.hp1 HG02818.hp1 others(5): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0012t0001others(1): Show | a0001c0002t0001g0105 a0001c0002t0001g0163 a0001c0002t0001g0201 others(5): Show |
8 | 318 | 0.0252 | 30 | c.*16 others(41): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 669 | chr8 | TogoVar | |||||||
MATN3_chr2_19987052_20017668 | 20010067 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG02293.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0058 a0001c0001t0001g0282 a0001c0001t0001g0283 others(4): Show |
8 | 432 | 0.0185 | 30 | c.223 others(47): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
MATN4_chr20_45288450_45313299 | 45305805 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 NA19080.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0094 a0002c0003t0001g0215 a0002c0003t0001g0216 |
3 | 422 | 0.0071 | 30 | c.-34 others(45): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
MAU2_chr19_19315829_19363754 | 19326704 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 344 | 0.0029 | 30 | c.276 others(47): Show |
MAU2 | ENSG00000129933.21 | transcript | ENST00000262815.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192916098 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | NA18906.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 |
2 | 298 | 0.0067 | 30 | c.211 others(47): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBD2_chr18_54146606_54229669 | 54180897 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0247 | 1 | 300 | 0.0033 | 30 | c.840 others(47): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7053262 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG03041.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0022 a0002c0004t0003g0041 |
3 | 258 | 0.0116 | 30 | c.*16 others(41): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 1528 | chr19 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7053830 | A | ATATATTA others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(113): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0008t0002others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 others(15): Show |
116 | 258 | 0.4496 | 30 | c.*22 others(41): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2096 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7053262 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0018 | 2 | 288 | 0.0069 | 30 | c.*30 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2944 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7053830 | A | ATATATTA others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(123): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0015a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0035 others(12): Show |
126 | 288 | 0.4375 | 30 | c.*24 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2376 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7053834 | A | ATTATAAT others(23): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 30 | c.*24 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2372 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7062125 | A | ATATTATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 30 | c.-35 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3450 | chr19 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7035512 | A | ATATAATA others(23): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0023 | a0023c0031 | a0023c0031t0002 | a0023c0031t0002g0051 | 1 | 262 | 0.0038 | 30 | c.*23 others(41): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2236 | chr19 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7035512 | A | ATATAATA others(23): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0006 | 1 | 249 | 0.0040 | 30 | c.*26 others(41): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2502 | chr19 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148239686 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 188 | 0.0053 | 30 | c.-68 others(49): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148296863 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 188 | 0.0053 | 30 | c.-67 others(51): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | chr2 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148296864 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0111 a0001c0003t0001g0075 |
2 | 188 | 0.0106 | 30 | c.-67 others(51): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97291900 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02165.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0096 others(4): Show |
7 | 254 | 0.0276 | 30 | c.174 others(49): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97368412 | T | TTAAAATA others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01952.hp2 HG03239.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0002t0001a0004c0004t0001 | a0001c0001t0001g0024 a0001c0001t0001g0064 a0001c0001t0001g0217 others(5): Show |
8 | 254 | 0.0315 | 30 | c.104 others(49): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396347 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 191 | 0.0052 | 30 | c.343 others(47): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396829 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0103 | 1 | 191 | 0.0052 | 30 | c.343 others(47): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396847 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0023 | 1 | 191 | 0.0052 | 30 | c.343 others(47): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20168599 | G | GAGAGAAG others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0017 | 1 | 336 | 0.0030 | 30 | c.100 others(49): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20168630 | A | AGAGAGGA others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 336 | 0.0030 | 30 | c.100 others(49): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20168640 | A | AGAGAAGA others(23): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0271 | 1 | 336 | 0.0030 | 30 | c.100 others(49): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar |