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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MECP2_chrX_154016573_154102717 | 154101347 | GGATGGAT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0187 | 1 | 230 | 0.0044 | -20 | c.-38 others(31): Show |
MECP2 | ENSG00000169057.25 | transcript | ENST00000303391.11 | protein_coding | 3631 | chrX | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151081299 | CTCCCTTC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00673.hp2 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(18): Show | a0001c0001t0002g0212a0001c0001t0003g0012a0001c0001t0008g0272others(24): Show | 27 | 280 | 0.0964 | -20 | c.-47 others(31): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4364 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151115327 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0036others(26): Show | a0001c0001t0002g0160a0001c0001t0003g0057a0001c0001t0003g0058others(53): Show | 56 | 280 | 0.2000 | -20 | c.100 others(35): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151299383 | TTCTTTTC others(13): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0039 | 1 | 280 | 0.0036 | -20 | c.225 others(41): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151307533 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0007a0001c0013a0001c0019 | a0001c0007t0009a0001c0007t0032a0001c0013t0050others(1): Show | a0001c0007t0009g0035a0001c0007t0032g0032a0001c0013t0050g0109others(2): Show | 5 | 280 | 0.0179 | -20 | c.225 others(41): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151368586 | ATTTATTT others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01071.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0006others(1): Show | a0001c0002t0002a0002c0003t0004a0003c0006t0006others(1): Show | a0001c0002t0002g0066a0001c0002t0002g0232a0002c0003t0004g0091others(2): Show | 5 | 280 | 0.0179 | -20 | c.355 others(37): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151368629 | TATTTCAT others(13): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02735.hp2 NA18950.hp1 |
a0001a0002 | a0001c0004a0001c0011a0002c0021 | a0001c0004t0023a0001c0011t0001a0002c0021t0001 | a0001c0004t0023g0179a0001c0011t0001g0244a0002c0021t0001g0262 | 3 | 280 | 0.0107 | -20 | c.355 others(37): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151368669 | CATTTCAT others(13): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0104 | 1 | 280 | 0.0036 | -20 | c.355 others(37): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151368677 | GTCATTTC others(13): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217 | 1 | 280 | 0.0036 | -20 | c.355 others(37): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151391995 | GAGATGTA others(13): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03225.hp2 HG03486.hp1 |
a0001a0002 | a0001c0031a0002c0025a0002c0037 | a0001c0031t0031a0002c0025t0020a0002c0037t0020 | a0001c0031t0031g0129a0002c0025t0020g0150a0002c0037t0020g0173 | 3 | 280 | 0.0107 | -20 | c.560 others(39): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 38/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12_chrX_71113596_71147450 | 71132767 | CCTCTTCT others(13): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0056others(2): Show | 7 | 273 | 0.0256 | -20 | c.441 others(35): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 31/44 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MED13L_chr12_115953576_116282693 | 116124138 | GAGAGAGA others(13): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG03927.hp1 NA18939.hp1 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0007a0001c0012t0001 | a0001c0001t0001g0043a0001c0001t0001g0146a0001c0001t0001g0147others(3): Show | 6 | 254 | 0.0236 | -20 | c.311 others(39): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | TogoVar | ||||||
MED13L_chr12_115953576_116282693 | 116185652 | GCTTTTCT others(13): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(47): Show |
a0001a0005a0006 | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(6): Show | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(47): Show | 50 | 254 | 0.1969 | -20 | c.310 others(39): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | TogoVar | ||||||
MED13_chr17_61937605_62070278 | 62015940 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233a0001c0001t0001g0243 | 2 | 326 | 0.0061 | -20 | c.128 others(39): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar | ||||||
MED13_chr17_61937605_62070278 | 62015944 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0289 | 1 | 326 | 0.0031 | -20 | c.128 others(39): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar | ||||||
MED13_chr17_61937605_62070278 | 62015948 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0309 | 1 | 326 | 0.0031 | -20 | c.128 others(39): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar | ||||||
MED13_chr17_61937605_62070278 | 62062590 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03540.hp2 HG03579.hp1 others(2): Show |
a0001a0006 | a0001c0007a0001c0021a0006c0022 | a0001c0007t0005a0001c0021t0017a0006c0022t0005 | a0001c0007t0005g0009a0001c0007t0005g0010a0001c0007t0005g0012others(2): Show | 5 | 326 | 0.0153 | -20 | c.301 others(35): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
MED15_chr22_20502610_20592619 | 20521695 | CTTATTTA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(77): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(8): Show | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0228others(74): Show | 80 | 341 | 0.2346 | -20 | c.68+ others(37): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MED15_chr22_20502610_20592619 | 20543111 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(170): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(164): Show | 173 | 341 | 0.5073 | -20 | c.156 others(37): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MED16_chr19_862963_898187 | 867682 | GAAACAAG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0008 | a0008c0018 | a0008c0018t0006 | a0008c0018t0006g0014 | 1 | 56 | 0.0179 | -20 | c.*39 others(29): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 280 | chr19 | TogoVar | ||||||
MED1_chr17_39399285_39456263 | 39414634 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02738.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006a0001c0002t0008 | a0001c0001t0002g0257a0001c0002t0006g0178a0001c0002t0008g0179 | 3 | 280 | 0.0107 | -20 | c.149 others(37): Show |
MED1 | ENSG00000125686.12 | transcript | ENST00000300651.11 | protein_coding | 16/16 | chr17 | TogoVar | ||||||
MED22_chr9_133333312_133353131 | 133336692 | CCAAAGAA others(13): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp2 NA19065.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 424 | 0.0071 | -20 | c.*47 others(31): Show |
MED22 | ENSG00000148297.16 | transcript | ENST00000343730.10 | protein_coding | 1619 | chr9 | TogoVar | ||||||
MED26_chr19_16569919_16633204 | 16591048 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG01175.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0025a0001c0001t0001g0079a0001c0001t0001g0080others(10): Show | 13 | 268 | 0.0485 | -20 | c.73- others(37): Show |
MED26 | ENSG00000105085.11 | transcript | ENST00000263390.8 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
MED28_chr4_17609641_17639105 | 17613019 | GGATGATT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0152 | a0001c0001t0152g0072 | 1 | 328 | 0.0031 | -20 | c.-16 others(31): Show |
MED28 | ENSG00000118579.13 | transcript | ENST00000237380.12 | protein_coding | 1621 | chr4 | TogoVar | ||||||
MED28_chr4_17609641_17639105 | 17632043 | ATTTTTTT others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01255.hp2 HG01516.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0048a0001c0001t0049others(3): Show | a0001c0001t0012g0022a0001c0001t0012g0033a0001c0001t0048g0097others(4): Show | 9 | 328 | 0.0274 | -20 | c.*82 others(31): Show |
MED28 | ENSG00000118579.13 | transcript | ENST00000237380.12 | protein_coding | 4/4 | 8270 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
MED8_chr1_43378917_43394800 | 43392108 | AAAAAAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -20 | c.-23 others(31): Show |
MED8 | ENSG00000159479.17 | transcript | ENST00000372457.9 | protein_coding | 2309 | chr1 | TogoVar | ||||||
MEF2A_chr15_99560984_99721488 | 99601807 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG03041.hp2 NA20129.hp1 |
a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0256a0003c0013t0001g0257 | 2 | 376 | 0.0053 | -20 | c.-14 others(39): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEF2A_chr15_99560984_99721488 | 99601839 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02129.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0032a0002c0011t0011 | a0001c0001t0032g0272a0002c0011t0011g0159 | 2 | 376 | 0.0053 | -20 | c.-14 others(39): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
MEF2A_chr15_99560984_99721488 | 99693425 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0294 | 1 | 376 | 0.0027 | -20 | c.858 others(37): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEF2C_chr5_88712117_88888184 | 88734565 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 302 | 0.0033 | -20 | c.638 others(37): Show |
MEF2C | ENSG00000081189.17 | transcript | ENST00000504921.7 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
MEF2C_chr5_88712117_88888184 | 88869276 | TACATATA others(13): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0239 | 1 | 302 | 0.0033 | -20 | c.-14 others(41): Show |
MEF2C | ENSG00000081189.17 | transcript | ENST00000504921.7 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
MEGF10_chr5_127285796_127466222 | 127391096 | GCGCGCGC others(13): Show |
G | intron_variant | MODIFIER | HG00642.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0077a0001c0001t0013g0099 | 2 | 268 | 0.0075 | -20 | c.413 others(37): Show |
MEGF10 | ENSG00000145794.17 | transcript | ENST00000503335.7 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MEGF10_chr5_127285796_127466222 | 127391139 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02040.hp2 HG02683.hp2 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0020a0001c0005t0007g0023a0001c0005t0007g0024 | 3 | 268 | 0.0112 | -20 | c.413 others(37): Show |
MEGF10 | ENSG00000145794.17 | transcript | ENST00000503335.7 | protein_coding | 5/24 | chr5 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66026840 | ACTGTGGC others(13): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0126 | 1 | 176 | 0.0057 | -20 | c.395 others(39): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 5/25 | chr15 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66085406 | GACCCTCA others(13): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0093 | 1 | 176 | 0.0057 | -20 | c.394 others(37): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 5/25 | chr15 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66141273 | TGTGTGTG others(13): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG02683.hp1 HG02683.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0117a0001c0001t0001g0130a0001c0001t0002g0158others(6): Show | 9 | 176 | 0.0511 | -20 | c.-8- others(37): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 1/25 | chr15 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66150823 | CGAGAGAG others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01256.hp1 others(3): Show |
a0001a0002a0008 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0006a0001c0010t0001g0093a0002c0002t0002g0166others(3): Show | 6 | 176 | 0.0341 | -20 | c.-8- others(37): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 1/25 | chr15 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66192470 | AAAAATAA others(13): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02738.hp1 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0005a0002c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0005g0133others(5): Show | 8 | 176 | 0.0455 | -20 | c.-9+ others(37): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 1/25 | chr15 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3485931 | CAAAAAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
a0001a0002a0003others(54): Show | a0001c0001a0001c0007a0002c0002others(67): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(88): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(159): Show | 162 | 292 | 0.5548 | -20 | c.*45 others(31): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 2019 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3538696 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0074 | a0074c0087 | a0074c0087t0051 | a0074c0087t0051g0049 | 1 | 292 | 0.0034 | -20 | c.482 others(39): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 4/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3588136 | GCAGGAGG others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(93): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0007a0001c0100others(39): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(52): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(93): Show | 96 | 292 | 0.3288 | -20 | c.376 others(37): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3588180 | GAGTGGCC others(13): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(54): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0007a0002c0002others(22): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(32): Show | a0001c0001t0001g0156a0001c0001t0001g0158a0001c0001t0001g0159others(54): Show | 57 | 292 | 0.1952 | -20 | c.376 others(37): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3588306 | GCAGGAGG others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(190): Show |
a0001a0002a0003others(68): Show | a0001c0001a0001c0007a0001c0100others(86): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(115): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(190): Show | 193 | 292 | 0.6610 | -20 | c.376 others(37): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF8_chr19_42320635_42383765 | 42370843 | CGGGGGGG others(13): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 172 | 0.0058 | -20 | c.713 others(35): Show |
MEGF8 | ENSG00000105429.13 | transcript | ENST00000251268.11 | protein_coding | 40/41 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MEGF9_chr9_120595811_120719470 | 120711840 | TACATACA others(13): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0170 | 1 | 290 | 0.0035 | -20 | c.601 others(37): Show |
MEGF9 | ENSG00000106780.9 | transcript | ENST00000373930.4 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
MEI1_chr22_41694503_41804454 | 41798116 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0178a0001c0001t0001g0241a0001c0001t0001g0242others(50): Show | 53 | 260 | 0.2039 | -20 | c.378 others(39): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MEIKIN_chr5_131801990_131950663 | 131885338 | TGAAAGAG others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 346 | 0.0029 | -20 | c.704 others(37): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 8/12 | chr5 | TogoVar | ||||||
MEIKIN_chr5_131801990_131950663 | 131885341 | AAGAGAGA others(13): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0061a0001c0001t0001g0078others(16): Show | 20 | 346 | 0.0578 | -20 | c.704 others(37): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 8/12 | chr5 | TogoVar | ||||||
MEIKIN_chr5_131801990_131950663 | 131914592 | GAAGGGAA others(13): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235a0001c0002t0001g0236 | 2 | 346 | 0.0058 | -20 | c.638 others(37): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 7/12 | chr5 | TogoVar | ||||||
MEIOB_chr16_1828986_1877164 | 1865472 | TATACACA others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(291): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0007a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(286): Show | 294 | 380 | 0.7737 | -20 | c.127 others(35): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 3/13 | chr16 | TogoVar |