| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MARVELD2_chr5_69410116_69449330 | 69410965 | C | CTGTCTAT others(11): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 NA18970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0005 | a0001c0001t0019g0031a0002c0002t0005g0178 | 2 | 345 | 0.0058 | 18 | c.-42 others(29): Show |
MARVELD2 | ENSG00000152939.17 | transcript | ENST00000325631.10 | protein_coding | 4150 | chr5 | TogoVar | ||||||
| MARVELD2_chr5_69410116_69449330 | 69426320 | C | CATTATTA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0032others(23): Show | 30 | 345 | 0.0870 | 18 | c.118 others(37): Show |
MARVELD2 | ENSG00000152939.17 | transcript | ENST00000325631.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAST1_chr19_12833515_12879952 | 12868103 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0002c0014t0001 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0193others(20): Show | 23 | 316 | 0.0728 | 18 | c.256 others(35): Show |
MAST1 | ENSG00000105613.10 | transcript | ENST00000251472.9 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MAST2_chr1_45798612_46041122 | 45883912 | G | GCCCCCCC others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0090 | 2 | 288 | 0.0069 | 18 | c.500 others(35): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAST2_chr1_45798612_46041122 | 45883912 | G | GCCTCCCC others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00741.hp2 others(17): Show |
a0001a0007a0014 | a0001c0001a0001c0015a0007c0008others(1): Show | a0001c0001t0001a0001c0015t0001a0007c0008t0001others(1): Show | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0001g0158others(17): Show | 20 | 288 | 0.0694 | 18 | c.500 others(35): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAST2_chr1_45798612_46041122 | 45888663 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0016a0008c0010t0001g0167 | 2 | 288 | 0.0069 | 18 | c.500 others(35): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAST2_chr1_45798612_46041122 | 45900195 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0002a0023 | a0002c0009a0023c0023 | a0002c0009t0001a0023c0023t0001 | a0002c0009t0001g0125a0023c0023t0001g0130 | 2 | 288 | 0.0069 | 18 | c.500 others(37): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | chr1 | TogoVar | ||||||
| MAST3_chr19_18092778_18156687 | 18093342 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0018 | a0001c0002t0004g0254a0001c0002t0018g0240 | 2 | 296 | 0.0068 | 18 | c.-44 others(29): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 4435 | chr19 | TogoVar | ||||||
| MAST4_chr5_66591393_67174593 | 66639278 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01257.hp1 HG03041.hp1 |
a0001a0003a0014 | a0001c0002a0003c0019a0014c0026 | a0001c0002t0024a0003c0019t0007a0014c0026t0001 | a0001c0002t0024g0049a0003c0019t0007g0026a0014c0026t0001g0104 | 3 | 108 | 0.0278 | 18 | c.363 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAST4_chr5_66591393_67174593 | 66837023 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG02451.hp1 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0009a0001c0036others(6): Show | a0001c0001t0008a0001c0009t0002a0001c0036t0012others(6): Show | a0001c0001t0008g0028a0001c0009t0002g0013a0001c0036t0012g0015others(6): Show | 9 | 108 | 0.0833 | 18 | c.642 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
| MAST4_chr5_66591393_67174593 | 66845126 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0079 | 1 | 108 | 0.0093 | 18 | c.643 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAST4_chr5_66591393_67174593 | 66847820 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0032 | 1 | 108 | 0.0093 | 18 | c.643 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAST4_chr5_66591393_67174593 | 66919099 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0108 | 1 | 108 | 0.0093 | 18 | c.674 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAST4_chr5_66591393_67174593 | 67033315 | C | CTCTCTGT others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0069 | 1 | 108 | 0.0093 | 18 | c.675 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAST4_chr5_66591393_67174593 | 67049008 | C | CACACATA others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0033 | a0001c0033t0007 | a0001c0033t0007g0016 | 1 | 108 | 0.0093 | 18 | c.675 others(35): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAST4_chr5_66591393_67174593 | 67049023 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02258.hp1 HG02280.hp2 others(8): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0021others(7): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0024others(8): Show | a0001c0001t0003g0047a0001c0001t0008g0087a0001c0002t0024g0049others(8): Show | 11 | 108 | 0.1019 | 18 | c.675 others(35): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAST4_chr5_66591393_67174593 | 67069287 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02258.hp2 NA19043.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0009a0001c0001t0026a0006c0012t0015 | a0001c0001t0009g0042a0001c0001t0009g0056a0001c0001t0026g0105others(1): Show | 4 | 108 | 0.0370 | 18 | c.763 others(37): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MATCAP2_chr7_36319152_36372240 | 36337098 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01255.hp2 HG01256.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0015a0001c0001t0001g0068a0001c0001t0001g0070others(9): Show | 13 | 388 | 0.0335 | 18 | c.715 others(33): Show |
MATCAP2 | ENSG00000164542.13 | transcript | ENST00000440378.6 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
| MATN2_chr8_97864064_98041724 | 97889459 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01934.hp2 others(6): Show |
a0001a0003a0007 | a0001c0002a0001c0004a0001c0027others(4): Show | a0001c0002t0001a0001c0004t0001a0001c0027t0002others(4): Show | a0001c0002t0001g0102a0001c0002t0001g0232a0001c0004t0001g0073others(6): Show | 9 | 318 | 0.0283 | 18 | c.142 others(35): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MATN2_chr8_97864064_98041724 | 97992928 | C | CAATAATA others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0008 | a0008c0075 | a0008c0075t0002 | a0008c0075t0002g0148 | 1 | 318 | 0.0031 | 18 | c.108 others(37): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MATN2_chr8_97864064_98041724 | 98000596 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01433.hp2 others(9): Show |
a0001a0006a0026 | a0001c0001a0001c0024a0006c0042others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0024t0002others(2): Show | a0001c0001t0002g0025a0001c0001t0002g0057a0001c0001t0002g0128others(9): Show | 12 | 318 | 0.0377 | 18 | c.120 others(37): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MATN2_chr8_97864064_98041724 | 98037382 | C | CTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03209.hp1 |
a0001a0023 | a0001c0016a0023c0070 | a0001c0016t0005a0023c0070t0005 | a0001c0016t0005g0095a0023c0070t0005g0037 | 2 | 318 | 0.0063 | 18 | c.*16 others(29): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 659 | chr8 | TogoVar | ||||||
| MATN2_chr8_97864064_98041724 | 98037392 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 HG02486.hp2 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0047a0001c0050others(2): Show | a0001c0002t0001a0001c0047t0001a0001c0050t0001others(2): Show | a0001c0002t0001g0154a0001c0002t0001g0155a0001c0002t0001g0294others(4): Show | 7 | 318 | 0.0220 | 18 | c.*16 others(29): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 669 | chr8 | TogoVar | ||||||
| MATN3_chr2_19987052_20017668 | 20002191 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(22): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0003t0001a0003c0005t0001 | a0001c0001t0001g0017a0001c0001t0001g0043a0001c0001t0001g0046others(17): Show | 25 | 432 | 0.0579 | 18 | c.917 others(33): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 3/7 | chr2 | TogoVar | ||||||
| MATN3_chr2_19987052_20017668 | 20010067 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03017.hp2 HG03239.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051a0001c0003t0001g0246 | 3 | 432 | 0.0069 | 18 | c.223 others(35): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
| MATN4_chr20_45288450_45313299 | 45299953 | T | TTCCAGCG others(11): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 422 | 0.0024 | 18 | c.101 others(35): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 6/9 | chr20 | TogoVar | ||||||
| MATN4_chr20_45288450_45313299 | 45305805 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02132.hp2 HG02622.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0002c0003t0001a0003c0002t0001 | a0001c0001t0001g0023a0001c0001t0001g0041a0001c0001t0001g0156others(6): Show | 12 | 422 | 0.0284 | 18 | c.-34 others(33): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
| MATR3_chr5_139288740_139336677 | 139311750 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 282 | 0.0036 | 18 | c.913 others(35): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MB21D2_chr3_192791815_192922856 | 192870699 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 298 | 0.0034 | 18 | c.211 others(37): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
| MBD2_chr18_54146606_54229669 | 54168572 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0013 | a0001c0001t0005g0126a0001c0001t0010g0246a0001c0001t0013g0114 | 3 | 300 | 0.0100 | 18 | c.841 others(35): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| MBD2_chr18_54146606_54229669 | 54168612 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0116 | 1 | 300 | 0.0033 | 18 | c.841 others(35): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| MBD2_chr18_54146606_54229669 | 54194557 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0022a0001c0001t0019g0024a0001c0001t0019g0025 | 3 | 300 | 0.0100 | 18 | c.703 others(35): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 2/6 | chr18 | TogoVar | ||||||
| MBD2_chr18_54146606_54229669 | 54226998 | A | AATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0165 | 1 | 300 | 0.0033 | 18 | c.-24 others(29): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 2330 | chr18 | TogoVar | ||||||
| MBD3L1_chr19_8827377_8848319 | 8838252 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18965.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0145 | 3 | 428 | 0.0070 | 18 | c.-10 others(37): Show |
MBD3L1 | ENSG00000170948.4 | transcript | ENST00000595891.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148021481 | T | TTGCTGCT others(11): Show |
5_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0186 | 1 | 188 | 0.0053 | 18 | c.-11 others(29): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 1/14 | 437246 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| MBD5_chr2_148016091_148521971 | 148180343 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01123.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0024others(28): Show | 31 | 188 | 0.1649 | 18 | c.-83 others(37): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148239686 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0066a0001c0001t0002g0050a0001c0001t0002g0068others(1): Show | 4 | 188 | 0.0213 | 18 | c.-68 others(37): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148288399 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01081.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0036a0001c0001t0001g0067a0001c0001t0001g0102others(14): Show | 17 | 188 | 0.0904 | 18 | c.-67 others(39): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148296864 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041a0001c0001t0002g0050 | 2 | 188 | 0.0106 | 18 | c.-67 others(39): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148330088 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00673.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0032a0001c0001t0001g0040a0001c0001t0001g0041others(27): Show | 30 | 188 | 0.1596 | 18 | c.-67 others(39): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148330115 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 HG04184.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0002 | a0001c0001t0001g0184a0004c0008t0002g0119 | 2 | 188 | 0.0106 | 18 | c.-67 others(39): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148412272 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025 | a0001c0001t0011g0154a0001c0001t0025g0181 | 2 | 188 | 0.0106 | 18 | c.-55 others(39): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148446602 | C | CTATGTGT others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 188 | 0.0053 | 18 | c.-55 others(39): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD5_chr2_148016091_148521971 | 148446602 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0171a0001c0001t0003g0111 | 2 | 188 | 0.0106 | 18 | c.-55 others(39): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MBD6_chr12_57517824_57535148 | 57522767 | G | GGCGGCGG others(11): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 340 | 0.0029 | 18 | c.-33 others(27): Show |
MBD6 | ENSG00000166987.15 | transcript | ENST00000355673.8 | protein_coding | 56 | chr12 | TogoVar | ||||||
| MBL2_chr10_52760380_52777784 | 52777603 | A | AGGAGTGG others(11): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 434 | 0.0023 | 18 | c.-48 others(29): Show |
MBL2 | ENSG00000165471.7 | transcript | ENST00000674931.1 | protein_coding | 4820 | chr10 | TogoVar | ||||||
| MBLAC2_chr5_90453209_90479771 | 90470785 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 NA18994.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125 | 3 | 378 | 0.0079 | 18 | c.454 others(35): Show |
MBLAC2 | ENSG00000176055.10 | transcript | ENST00000316610.7 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
| MBLAC2_chr5_90453209_90479771 | 90478569 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0148 | 1 | 378 | 0.0027 | 18 | c.-42 others(29): Show |
MBLAC2 | ENSG00000176055.10 | transcript | ENST00000316610.7 | protein_coding | 3799 | chr5 | TogoVar | ||||||
| MBNL1_chr3_152263929_152470780 | 152286382 | T | TTATATTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0281a0001c0001t0001g0282a0001c0001t0002g0280others(11): Show | 14 | 338 | 0.0414 | 18 | c.-78 others(39): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MBNL1_chr3_152263929_152470780 | 152325087 | G | GCCCCCCC others(11): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 338 | 0.0030 | 18 | c.174 others(37): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |