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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAPT_chr17_45889554_46033334 | 45956548 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 253 | 0.0040 | -18 | c.-17 others(35): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MARCHF10_chr17_62696314_62813314 | 62793051 | GCCTCCAT others(11): Show |
G | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0236 | 1 | 280 | 0.0036 | -18 | c.91- others(33): Show |
MARCHF10 | ENSG00000173838.12 | transcript | ENST00000311269.10 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
MARCHF11_chr5_16062139_16184791 | 16085939 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 298 | 0.0034 | -18 | c.886 others(35): Show |
MARCHF11 | ENSG00000183654.9 | transcript | ENST00000332432.9 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163620598 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0044 a0001c0001t0020g0070 |
2 | 102 | 0.0196 | -18 | c.163 others(35): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163620600 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02132.hp2 NA19058.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 a0002c0003t0001g0006 |
2 | 102 | 0.0196 | -18 | c.163 others(35): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163733209 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01261.hp2 HG02165.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0064 a0001c0001t0005g0074 others(3): Show |
6 | 102 | 0.0588 | -18 | c.112 others(37): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163975180 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0083 others(5): Show |
8 | 102 | 0.0784 | -18 | c.-39 others(37): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164176968 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 102 | 0.0098 | -18 | c.-32 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164176970 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0040 | 1 | 102 | 0.0098 | -18 | c.-32 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164176974 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0101 | 1 | 102 | 0.0098 | -18 | c.-32 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164199665 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0042 | 1 | 102 | 0.0098 | -18 | c.-32 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164199667 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01496.hp2 NA18969.hp2 NA18984.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0021a0002c0003t0008others(1): Show | a0001c0001t0001g0019 a0001c0001t0021g0028 a0002c0003t0008g0075 others(1): Show |
4 | 102 | 0.0392 | -18 | c.-32 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164213203 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01109.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0024 others(43): Show |
46 | 102 | 0.4510 | -18 | c.-32 others(41): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164346604 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02055.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0064 a0001c0001t0005g0029 a0001c0001t0006g0072 others(1): Show |
4 | 102 | 0.0392 | -18 | c.-32 others(39): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF2_chr19_8408305_8444017 | 8429479 | CTTATTAT others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01071.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0363 others(35): Show |
38 | 392 | 0.0969 | -18 | c.373 others(35): Show |
MARCHF2 | ENSG00000099785.11 | transcript | ENST00000215555.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MARCHF3_chr5_126862714_127035558 | 126875974 | CACAGGGC others(11): Show |
C | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 296 | 0.0034 | -18 | c.603 others(35): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126931570 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 296 | 0.0034 | -18 | c.-56 others(37): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126966905 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0065a0001c0001t0072others(1): Show | a0001c0001t0020g0150 a0001c0001t0065g0165 a0001c0001t0072g0164 others(1): Show |
4 | 296 | 0.0135 | -18 | c.-56 others(37): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216282647 | CTGCTTGA others(11): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0044 | 1 | 330 | 0.0030 | -18 | c.672 others(33): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216354967 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 330 | 0.0030 | -18 | c.516 others(37): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARCHF5_chr10_92286167_92358964 | 92331923 | ATATATGT others(11): Show |
A | intron_variant | MODIFIER | NA18747.hp2 NA19009.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0010g0100 |
3 | 306 | 0.0098 | -18 | c.239 others(35): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10435631 | CTATATAA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01168.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0029a0001c0001t0059others(8): Show | a0001c0001t0027g0020 a0001c0001t0027g0022 a0001c0001t0029g0050 others(10): Show |
13 | 284 | 0.0458 | -18 | c.*19 others(29): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1954 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MARCHF8_chr10_45449585_45540371 | 45536835 | AAATAATA others(11): Show |
A | upstream_gene_variant | MODIFIER | NA19002.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0294 | 1 | 348 | 0.0029 | -18 | c.-17 others(29): Show |
MARCHF8 | ENSG00000165406.16 | transcript | ENST00000453424.7 | protein_coding | 1465 | chr10 | TogoVar | |||||||
MARCKS_chr6_113852345_113868475 | 113863789 | CATATATA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(38): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0005a0001c0001t0017a0001c0001t0019others(8): Show | a0001c0001t0005g0003 a0001c0001t0017g0008 a0001c0001t0019g0003 others(9): Show |
41 | 442 | 0.0928 | -18 | c.*32 others(29): Show |
MARCKS | ENSG00000277443.3 | transcript | ENST00000612661.2 | protein_coding | 315 | chr6 | TogoVar | |||||||
MARCO_chr2_118937194_118999660 | 118990850 | CAGGGGCT others(11): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02486.hp2 others(10): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0012 | a0001c0001t0001a0002c0002t0001a0008c0012t0001 | a0001c0001t0001g0042 a0001c0001t0001g0194 a0002c0002t0001g0032 others(10): Show |
13 | 394 | 0.0330 | -18 | c.110 others(35): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARK2_chr11_63834110_63916020 | 63856768 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0110 |
2 | 232 | 0.0086 | -18 | c.54+ others(35): Show |
MARK2 | ENSG00000072518.23 | transcript | ENST00000402010.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103403326 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 348 | 0.0029 | -18 | c.52- others(33): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103450875 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02165.hp2 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0222 a0001c0001t0001g0320 a0001c0001t0001g0330 others(1): Show |
4 | 348 | 0.0115 | -18 | c.347 others(35): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103486887 | AATTAGTA others(11): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0088 others(4): Show |
7 | 348 | 0.0201 | -18 | c.158 others(37): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 14/17 | chr14 | TogoVar | |||||||
MARS1_chr12_57483068_57521652 | 57492669 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 288 | 0.0035 | -18 | c.770 others(35): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MAS1_chr6_159885988_159922447 | 159920228 | TTATATAT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 a0001c0001t0004g0154 |
2 | 348 | 0.0058 | -18 | c.*12 others(31): Show |
MAS1 | ENSG00000130368.7 | transcript | ENST00000674077.2 | protein_coding | 2782 | chr6 | TogoVar | |||||||
MASP1_chr3_187212282_187296737 | 187294397 | TGAGGGGT others(11): Show |
T | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 384 | 0.0026 | -18 | c.-27 others(29): Show |
MASP1 | ENSG00000127241.18 | transcript | ENST00000337774.10 | protein_coding | 2661 | chr3 | TogoVar | |||||||
MASP1_chr3_187229082_187296737 | 187294397 | TGAGGGGT others(11): Show |
T | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0295 | 1 | 400 | 0.0025 | -18 | c.-27 others(29): Show |
MASP1 | ENSG00000127241.18 | transcript | ENST00000296280.11 | protein_coding | 2661 | chr3 | TogoVar | |||||||
MASP2_chr1_11021523_11052239 | 11033951 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG03225.hp2 others(1): Show |
a0002a0016 | a0002c0004a0002c0006a0016c0028 | a0002c0004t0002a0002c0006t0002a0016c0028t0002 | a0002c0004t0002g0239 a0002c0004t0002g0240 a0002c0006t0002g0257 others(1): Show |
4 | 346 | 0.0116 | -18 | c.108 others(35): Show |
MASP2 | ENSG00000009724.18 | transcript | ENST00000400897.8 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
MASP2_chr1_11021523_11052239 | 11039017 | TACTCTTC others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00609.hp2 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0002c0004others(5): Show | a0001c0009t0001a0002c0002t0002a0002c0004t0002others(6): Show | a0001c0009t0001g0250 a0001c0009t0001g0276 a0001c0009t0001g0281 others(52): Show |
55 | 346 | 0.1590 | -18 | c.890 others(35): Show |
MASP2 | ENSG00000009724.18 | transcript | ENST00000400897.8 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
MAST1_chr19_12833515_12879952 | 12858006 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 others(5): Show |
8 | 316 | 0.0253 | -18 | c.107 others(35): Show |
MAST1 | ENSG00000105613.10 | transcript | ENST00000251472.9 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45888663 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(77): Show |
a0002a0003a0010others(8): Show | a0002c0002a0002c0007a0002c0009others(17): Show | a0002c0002t0001a0002c0007t0001a0002c0009t0001others(17): Show | a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0025 others(77): Show |
80 | 288 | 0.2778 | -18 | c.500 others(35): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66844139 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 1 | 108 | 0.0093 | -18 | c.642 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66907158 | CGAGAGAG others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02572.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0005a0004c0007others(1): Show | a0001c0001t0026a0002c0005t0025a0004c0007t0009others(1): Show | a0001c0001t0026g0105 a0002c0005t0025g0106 a0004c0007t0009g0058 others(1): Show |
4 | 108 | 0.0370 | -18 | c.674 others(35): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66907587 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0038 | 1 | 108 | 0.0093 | -18 | c.674 others(35): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66919960 | CCTTCCTT others(11): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0099 | 1 | 108 | 0.0093 | -18 | c.674 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | chr5 | TogoVar | |||||||
MAT2B_chr5_163500619_163524354 | 163505337 | TTTCCCGA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 370 | 0.0027 | -18 | c.-34 others(27): Show |
MAT2B | ENSG00000038274.18 | transcript | ENST00000321757.11 | protein_coding | 281 | chr5 | TogoVar | |||||||
MATCAP1_chr16_67170599_67188963 | 67176054 | AGTGTGTG others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02647.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0009a0001c0001t0023a0001c0002t0009others(1): Show | a0001c0001t0009g0034 a0001c0001t0009g0091 a0001c0001t0023g0078 others(3): Show |
9 | 308 | 0.0292 | -18 | c.*73 others(27): Show |
MATCAP1 | ENSG00000196123.13 | transcript | ENST00000563902.2 | protein_coding | 7/7 | 739 | chr16 | TogoVar | ||||||
MATN2_chr8_97864064_98041724 | 98037382 | CTATGTAT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02486.hp1 others(5): Show |
a0001a0002 | a0001c0021a0001c0025a0001c0066others(2): Show | a0001c0021t0006a0001c0021t0011a0001c0025t0006others(4): Show | a0001c0021t0006g0009 a0001c0021t0006g0281 a0001c0021t0011g0244 others(5): Show |
8 | 318 | 0.0252 | -18 | c.*16 others(29): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 659 | chr8 | TogoVar | |||||||
MATN4_chr20_45288450_45313299 | 45299962 | TGGGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp1 others(47): Show |
a0001a0002a0007 | a0001c0008a0002c0004a0007c0009 | a0001c0008t0005a0002c0004t0001a0002c0004t0003others(2): Show | a0001c0008t0005g0015 a0001c0008t0005g0200 a0002c0004t0001g0057 others(36): Show |
50 | 422 | 0.1185 | -18 | c.101 others(35): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
MATR3_chr5_139288740_139336677 | 139311750 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18942.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0217 a0001c0001t0013g0242 |
2 | 282 | 0.0071 | -18 | c.913 others(35): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAU2_chr19_19315829_19363754 | 19347881 | ACTCAGCC others(11): Show |
A | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 344 | 0.0029 | -18 | c.130 others(35): Show |
MAU2 | ENSG00000129933.21 | transcript | ENST00000262815.13 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAVS_chr20_3841834_3881118 | 3870634 | TAAAAAAA others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0148 | a0002c0002t0148g0328 | 1 | 420 | 0.0024 | -18 | c.*45 others(29): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 7/7 | 4512 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MAX_chr14_65070127_65107517 | 65089756 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01346.hp2 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0021 a0001c0001t0001g0166 a0001c0001t0001g0171 others(2): Show |
8 | 382 | 0.0209 | -18 | c.171 others(35): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
MAX_chr14_65070127_65107517 | 65107166 | TCACACAC others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 NA18612.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0034 others(1): Show |
6 | 382 | 0.0157 | -18 | c.-48 others(29): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 4650 | chr14 | TogoVar |