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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MKNK1_chr1_46552407_46609268 | 46585249 | CAAAAAAA others(24): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 346 | 0.0029 | -31 | c.-2- others(46): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
MLC1_chr22_50054391_50090426 | 50082167 | GTGGGGTC others(24): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02717.hp1 HG03471.hp2 |
a0001a0004 | a0001c0001a0001c0009a0004c0004 | a0001c0001t0001a0001c0009t0014a0004c0004t0022 | a0001c0001t0001g0104a0001c0009t0014g0105a0004c0004t0022g0163 | 3 | 212 | 0.0142 | -31 | c.267 others(46): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 3/11 | chr22 | TogoVar | ||||||
MLLT3_chr9_20336669_20627499 | 20614905 | GAACAAAG others(24): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00642.hp2 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0072a0001c0001t0001g0128a0001c0001t0001g0135others(51): Show | 54 | 186 | 0.2903 | -31 | c.193 others(48): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543895 | AGTGGTGA others(24): Show |
A | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 286 | 0.0035 | -31 | c.153 others(50): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237545081 | ACAATTAT others(24): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0026a0020c0018t0001g0027 | 2 | 286 | 0.0070 | -31 | c.154 others(50): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MMP17_chr12_131823393_131856771 | 131832597 | GCCTCCTG others(24): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02109.hp2 |
a0005 | a0005c0004 | a0005c0004t0001a0005c0004t0017 | a0005c0004t0001g0093a0005c0004t0017g0092 | 2 | 398 | 0.0050 | -31 | c.159 others(48): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MN1_chr22_27743277_27806756 | 27744912 | CCCCACTG others(24): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(65): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0193a0001c0001t0002g0059a0001c0001t0002g0062others(65): Show | 68 | 394 | 0.1726 | -31 | c.*59 others(42): Show |
MN1 | ENSG00000169184.7 | transcript | ENST00000302326.5 | protein_coding | 3364 | chr22 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39909232 | GGGGAGAG others(24): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 272 | 0.0037 | -31 | c.110 others(48): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
MOK_chr14_102223836_102310164 | 102261401 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG03704.hp1 HG03834.hp2 HG04228.hp1 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0020a0003c0002t0002g0023a0003c0002t0002g0024 | 3 | 252 | 0.0119 | -31 | c.283 others(48): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | ||||||
MOV10L1_chr22_50085006_50166687 | 50137733 | TATATTTT others(24): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(16): Show |
a0001a0006 | a0001c0007a0006c0031 | a0001c0007t0001a0006c0031t0001 | a0001c0007t0001g0050a0001c0007t0001g0051a0001c0007t0001g0052others(16): Show | 19 | 400 | 0.0475 | -31 | c.207 others(50): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPHOSPH6_chr16_82143162_82175224 | 82170964 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02055.hp1 HG02886.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0009a0001c0002t0006g0247a0001c0002t0006g0248others(4): Show | 9 | 434 | 0.0207 | -31 | c.-82 others(40): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 741 | chr16 | TogoVar | ||||||
MPHOSPH6_chr16_82143162_82175224 | 82170966 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0010 | a0001c0002t0006g0009a0001c0002t0006g0246a0001c0002t0010g0245others(1): Show | 6 | 434 | 0.0138 | -31 | c.-82 others(40): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 743 | chr16 | TogoVar | ||||||
MPRIP_chr17_17037457_17197643 | 17096271 | GGTGTGTG others(24): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0035 | a0004c0035t0107 | a0004c0035t0107g0196 | 1 | 314 | 0.0032 | -31 | c.267 others(50): Show |
MPRIP | ENSG00000133030.22 | transcript | ENST00000651222.2 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144203021 | GGGGGGGG others(24): Show |
G | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 140 | 0.0071 | -31 | c.114 others(50): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233788960 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03130.hp2 HG03471.hp2 others(1): Show |
a0004a0073a0095others(1): Show | a0004c0120a0073c0066a0095c0121others(1): Show | a0004c0120t0001a0073c0066t0001a0095c0121t0001others(1): Show | a0004c0120t0001g0362a0073c0066t0001g0365a0095c0121t0001g0363others(1): Show | 4 | 378 | 0.0106 | -31 | c.277 others(46): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRPL13_chr8_120390437_120450150 | 120431642 | GACAAACA others(24): Show |
G | intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 346 | 0.0029 | -31 | c.245 others(46): Show |
MRPL13 | ENSG00000172172.8 | transcript | ENST00000306185.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
MRPL3_chr3_131457212_131507971 | 131507811 | GCTCTGTC others(24): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0058 | 1 | 390 | 0.0026 | -31 | c.-50 others(42): Show |
MRPL3 | ENSG00000114686.9 | transcript | ENST00000264995.8 | protein_coding | 4841 | chr3 | TogoVar | ||||||
MRPL42_chr12_93462514_93521214 | 93513840 | CAGATAGT others(24): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0114 | 1 | 388 | 0.0026 | -31 | c.*12 others(44): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 6/6 | 12621 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
MRPS14_chr1_175007958_175028425 | 175027418 | TTAATGGC others(24): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | -31 | c.-40 others(42): Show |
MRPS14 | ENSG00000120333.4 | transcript | ENST00000476371.1 | protein_coding | 3994 | chr1 | TogoVar | ||||||
MS4A12_chr11_60487778_60512430 | 60504013 | AAGGACAT others(24): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 432 | 0.0023 | -31 | c.588 others(46): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MS4A14_chr11_60391459_60422756 | 60421412 | AGATAGAT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18940.hp1 NA18960.hp1 NA19000.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0017 | 3 | 428 | 0.0070 | -31 | c.*44 others(42): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 3657 | chr11 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80869362 | TAGTTACA others(24): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 362 | 0.0028 | -31 | c.313 others(50): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH6_chr2_47778145_47811953 | 47788900 | CTTCTTCC others(24): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 390 | 0.0026 | -31 | c.261 others(48): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767997 | TGGAGGAG others(24): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG02895.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0005a0001c0001t0001g0073a0009c0011t0001g0005 | 4 | 388 | 0.0103 | -31 | c.159 others(48): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16111691 | ATTTAAGT others(24): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(23): Show | a0001c0001t0001g0241a0001c0001t0001g0249a0001c0001t0003g0025others(64): Show | 67 | 330 | 0.2030 | -31 | c.122 others(50): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 9/9 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10337727 | TCCTCAGC others(24): Show |
T | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0221 | 1 | 286 | 0.0035 | -31 | c.543 others(50): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTG1_chr10_133389157_133427520 | 133424756 | TCCCCGCG others(24): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0034a0001c0001t0006g0093 | 2 | 428 | 0.0047 | -31 | c.*45 others(42): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 2237 | chr10 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64397135 | AAAAATAT others(24): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 342 | 0.0029 | -31 | c.42- others(46): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTIF2_chr2_55231595_55274231 | 55253794 | GACAGAGT others(24): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 384 | 0.0026 | -31 | c.664 others(46): Show |
MTIF2 | ENSG00000085760.15 | transcript | ENST00000263629.9 | protein_coding | 7/15 | chr2 | TogoVar | ||||||
MTMR11_chr1_149923651_149941879 | 149940599 | AAAGGAAC others(24): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 382 | 0.0026 | -31 | c.-39 others(42): Show |
MTMR11 | ENSG00000014914.21 | transcript | ENST00000439741.4 | protein_coding | 3721 | chr1 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195764236 | TGAGAGCT others(24): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
a0002a0004a0005others(140): Show | a0002c0002a0002c0098a0002c0099others(151): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(151): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(176): Show | 180 | 249 | 0.7229 | -31 | c.139 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 10/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767683 | ACTGGCCA others(24): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0104 | a0104c0030 | a0104c0030t0005 | a0104c0030t0005g0232 | 1 | 249 | 0.0040 | -31 | c.135 others(50): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195773492 | TATCACTC others(24): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp2 NA18990.hp2 others(1): Show |
a0002 | a0002c0002a0002c0100 | a0002c0002t0001a0002c0100t0001 | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0100t0001g0121 | 4 | 249 | 0.0161 | -31 | c.130 others(50): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1234708 | AGGTGGGG others(24): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | -31 | c.263 others(46): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 21/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MX1_chr21_41421239_41464212 | 41448926 | GGTTTTGT others(24): Show |
G | intron_variant | MODIFIER | NA18955.hp2 NA19000.hp2 NA19070.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157a0001c0002t0001g0165a0001c0002t0001g0166others(1): Show | 4 | 408 | 0.0098 | -31 | c.127 others(48): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110284722 | TTGTGTAA others(24): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0026a0001c0001t0002g0027a0001c0003t0002g0204others(8): Show | 11 | 372 | 0.0296 | -31 | c.725 others(44): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA5_chrX_3303565_3351652 | 3341396 | ATAATATA others(24): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 284 | 0.0035 | -31 | c.188 others(48): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878631 | AAAAAAAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02132.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0003g0003 | 4 | 378 | 0.0106 | -31 | c.*41 others(42): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2197 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878633 | AAAAAAAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02027.hp2 HG02148.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0005a0001c0001t0002g0039others(8): Show | 19 | 378 | 0.0503 | -31 | c.*41 others(42): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2199 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878635 | AAAAAAAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01074.hp1 HG01928.hp1 others(19): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0029others(9): Show | 22 | 378 | 0.0582 | -31 | c.*41 others(42): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2201 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878637 | AAAAAAAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02004.hp2 HG02922.hp2 NA18951.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0013a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0003t0013g0014others(1): Show | 6 | 378 | 0.0159 | -31 | c.*41 others(42): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2203 | chr19 | TogoVar | ||||||
MYD88_chr3_38133661_38148022 | 38144826 | TACTATCA others(24): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 408 | 0.0025 | -31 | c.*35 others(42): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1805 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123607913 | ATATATAT others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG03225.hp1 |
a0030a0032 | a0030c0052a0032c0045 | a0030c0052t0029a0032c0045t0032 | a0030c0052t0029g0103a0032c0045t0032g0033 | 2 | 156 | 0.0128 | -31 | c.*61 others(42): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2135 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16796329 | GGAAAGAA others(24): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01358.hp1 others(13): Show |
a0001a0002a0023others(2): Show | a0001c0001a0001c0015a0001c0025others(7): Show | a0001c0001t0012a0001c0001t0026a0001c0001t0048others(13): Show | a0001c0001t0012g0198a0001c0001t0026g0241a0001c0001t0048g0228others(13): Show | 16 | 272 | 0.0588 | -31 | c.280 others(48): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023303 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0003 | a0003c0044 | a0003c0044t0002 | a0003c0044t0002g0148 | 1 | 152 | 0.0066 | -31 | c.279 others(50): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109023479 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG02976.hp2 HG03195.hp2 |
a0001a0013 | a0001c0022a0013c0018 | a0001c0022t0003a0013c0018t0001 | a0001c0022t0003g0064a0013c0018t0001g0134a0013c0018t0001g0152 | 3 | 152 | 0.0197 | -31 | c.279 others(50): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25758429 | AAACAGTC others(24): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0040 | 1 | 228 | 0.0044 | -31 | c.-10 others(50): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 1/43 | chr22 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961611 | GCTGAGGG others(24): Show |
G | downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 378 | 0.0027 | -31 | c.*10 others(42): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1050 | chr7 | TogoVar | ||||||
MYO3A_chr10_25929229_26217532 | 26176705 | CAAAGTTA others(24): Show |
C | frameshift_variant | HIGH | HG02027.hp1 | a0030 | a0030c0035 | a0030c0035t0001 | a0030c0035t0001g0271 | 1 | 280 | 0.0036 | -31 | c.430 others(40): Show |
p.Leu others(6): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 31/35 | 4506/5624 | 4302/4851 | 1434/1616 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
MYO5B_chr18_49817789_50200147 | 50122633 | GGGAGAGA others(24): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(88): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0034others(33): Show | a0001c0001t0001a0001c0001t0026a0001c0002t0001others(44): Show | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0039others(88): Show | 91 | 238 | 0.3824 | -31 | c.28- others(48): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar |