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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTHFD2L_chr4_74153118_74308099 | 74291003 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 200 | 0.0050 | 27 | c.931 others(44): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(20): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02818.hp1 |
a0001a0023 | a0001c0004a0023c0066 | a0001c0004t0017a0023c0066t0017 | a0001c0004t0017g0079a0023c0066t0017g0316 | 2 | 330 | 0.0061 | 27 | c.*40 others(38): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17767706 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18993.hp1 |
a0002 | a0002c0008a0002c0010 | a0002c0008t0001a0002c0010t0024 | a0002c0008t0001g0160a0002c0010t0024g0049 | 2 | 330 | 0.0061 | 27 | c.-15 others(48): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29071409 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 92 | 0.0109 | 27 | c.244 others(48): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC12_chr7_100964565_101023936 | 100966269 | A | ACCCCCCA others(20): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG03669.hp1 NA18978.hp2 |
a0038a0070a0092 | a0038c0016a0070c0250a0092c0141 | a0038c0016t0001a0070c0250t0001a0092c0141t0001 | a0038c0016t0001g0016a0070c0250t0001g0088a0092c0141t0001g0249 | 3 | 342 | 0.0088 | 27 | c.-33 others(38): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 3295 | chr7 | TogoVar | ||||||
MUC13_chr3_124900442_124939751 | 124938504 | T | TCCCCCCC others(20): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0377 | 1 | 452 | 0.0022 | 27 | c.-37 others(38): Show |
MUC13 | ENSG00000173702.7 | transcript | ENST00000616727.4 | protein_coding | 3754 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767530 | G | GCCACCAC others(20): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02895.hp2 HG04199.hp2 others(2): Show |
a0033a0074a0076others(2): Show | a0033c0132a0074c0167a0076c0168others(2): Show | a0033c0132t0002a0074c0167t0001a0076c0168t0001others(2): Show | a0033c0132t0002g0016a0074c0167t0001g0067a0076c0168t0001g0082others(2): Show | 5 | 249 | 0.0201 | 27 | c.135 others(46): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767820 | C | CCACCACC others(20): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18974.hp2 |
a0008a0186 | a0008c0086a0186c0128 | a0008c0086t0001a0186c0128t0001 | a0008c0086t0001g0163a0186c0128t0001g0170 | 2 | 249 | 0.0080 | 27 | c.135 others(48): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUS81_chr11_65855433_65871439 | 65868359 | G | GCCCCCCC others(20): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 394 | 0.0025 | 27 | c.*23 others(38): Show |
MUS81 | ENSG00000172732.12 | transcript | ENST00000308110.9 | protein_coding | 1921 | chr11 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689674 | T | TATAATAT others(20): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0179 | 1 | 326 | 0.0031 | 27 | c.358 others(44): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110689674 | T | TATAATAT others(20): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01175.hp2 others(6): Show |
a0001a0002a0006 | a0001c0002a0002c0012a0006c0009 | a0001c0002t0002a0001c0002t0003a0002c0012t0018others(1): Show | a0001c0002t0002g0102a0001c0002t0003g0096a0001c0002t0003g0097others(6): Show | 9 | 326 | 0.0276 | 27 | c.358 others(44): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110701652 | A | ATATTTTA others(20): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0142 | 1 | 326 | 0.0031 | 27 | c.628 others(44): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0367 | 1 | 372 | 0.0027 | 27 | c.274 others(44): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA5_chrX_3303565_3351652 | 3325847 | A | AATAATTT others(20): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0008 | a0008c0021 | a0008c0021t0001 | a0008c0021t0001g0147 | 1 | 284 | 0.0035 | 27 | c.710 others(42): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3329319 | A | AGAAGGAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(108): Show |
a0001a0002a0006others(11): Show | a0001c0001a0001c0038a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0012others(106): Show | 111 | 284 | 0.3909 | 27 | c.709 others(42): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3340967 | T | TATGTATA others(20): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0027 | a0027c0032 | a0027c0032t0006 | a0027c0032t0006g0240 | 1 | 284 | 0.0035 | 27 | c.188 others(44): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3341431 | T | TATATATT others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0163 | 1 | 284 | 0.0035 | 27 | c.188 others(44): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591830 | T | TTCTTCTT others(20): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0357 | 1 | 360 | 0.0028 | 27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3140 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(20): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02027.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010 | a0002c0002t0002g0271a0002c0002t0010g0208 | 2 | 360 | 0.0056 | 27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(20): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 NA19079.hp2 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0005 | a0001c0001t0001g0071a0001c0021t0005g0260 | 2 | 360 | 0.0056 | 27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591846 | T | TCTCCTTC others(20): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG03669.hp2 HG03834.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0188a0001c0001t0001g0307a0002c0002t0001g0228 | 3 | 360 | 0.0083 | 27 | c.-32 others(38): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3124 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101659945 | T | TTTTCTTG others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 360 | 0.0028 | 27 | c.192 others(44): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC1_chr12_101589971_101691028 | 101674862 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02723.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0172a0001c0004t0005g0234a0001c0004t0005g0236 | 3 | 360 | 0.0083 | 27 | c.281 others(44): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC2_chr19_50427892_50471321 | 50459507 | T | TGGGGGTG others(20): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 396 | 0.0025 | 27 | c.279 others(44): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYBPC3_chr11_47326406_47357702 | 47348927 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG04204.hp2 NA18906.hp1 |
a0001a0006 | a0001c0002a0006c0011 | a0001c0002t0001a0006c0011t0001 | a0001c0002t0001g0257a0001c0002t0001g0258a0006c0011t0001g0210 | 3 | 374 | 0.0080 | 27 | c.655 others(42): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 334 | 0.0030 | 27 | c.594 others(44): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 334 | 0.0030 | 27 | c.594 others(44): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522707 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18612.hp2 NA19009.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0341a0002c0003t0001g0343 | 2 | 376 | 0.0053 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 376 | 0.0027 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01070.hp2 HG01071.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0033a0002c0004 | a0001c0001t0001a0001c0033t0001a0002c0004t0002 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0113others(4): Show | 7 | 376 | 0.0186 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(40): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0004a0007c0009others(1): Show | a0001c0001t0001a0002c0004t0002a0007c0009t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0032others(39): Show | 43 | 376 | 0.1144 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(14): Show |
a0001a0013a0014 | a0001c0001a0013c0014a0014c0017 | a0001c0001t0001a0013c0014t0001a0014c0017t0001 | a0001c0001t0001g0062a0001c0001t0001g0089a0001c0001t0001g0094others(14): Show | 17 | 376 | 0.0452 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 376 | 0.0027 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19068.hp1 NA20905.hp1 |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0002c0003t0001a0005c0007t0001 | a0001c0001t0001g0084a0002c0003t0001g0327a0005c0007t0001g0172 | 3 | 376 | 0.0080 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0328 | 1 | 376 | 0.0027 | 27 | c.125 others(44): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBP_chr1_38857493_38878348 | 38866044 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02886.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 4 | 434 | 0.0092 | 27 | c.267 others(42): Show |
MYCBP | ENSG00000214114.9 | transcript | ENST00000397572.5 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
MYCN_chr2_15935550_15952004 | 15935589 | A | ACACATTA others(20): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 436 | 0.0023 | 27 | c.-52 others(38): Show |
MYCN | ENSG00000134323.13 | transcript | ENST00000281043.4 | protein_coding | 4960 | chr2 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18969.hp1 |
a0001 | a0001c0010a0001c0051 | a0001c0010t0001a0001c0051t0001 | a0001c0010t0001g0236a0001c0051t0001g0017 | 2 | 297 | 0.0067 | 27 | c.578 others(46): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15788095 | T | TTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19055.hp2 |
a0001a0002 | a0001c0008a0002c0001 | a0001c0008t0001a0002c0001t0001 | a0001c0008t0001g0193a0002c0001t0001g0211 | 2 | 297 | 0.0067 | 27 | c.531 others(44): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | ||||||
MYH14_chr19_50198622_50315540 | 50267623 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02083.hp1 HG03704.hp2 others(1): Show |
a0001a0002a0024 | a0001c0007a0002c0016a0024c0052 | a0001c0007t0001a0001c0007t0003a0002c0016t0003others(1): Show | a0001c0007t0001g0281a0001c0007t0003g0237a0002c0016t0003g0115others(1): Show | 4 | 298 | 0.0134 | 27 | c.282 others(44): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 23/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYH15_chr3_108375368_108515596 | 108435701 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp2 HG03209.hp2 |
a0001a0016 | a0001c0001a0016c0025 | a0001c0001t0001a0016c0025t0001 | a0001c0001t0001g0119a0001c0001t0001g0122a0016c0025t0001g0090 | 3 | 306 | 0.0098 | 27 | c.322 others(46): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 25/40 | chr3 | TogoVar | ||||||
MYH1_chr17_10487307_10523542 | 10495760 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01433.hp1 HG01928.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0007others(1): Show | a0001c0001t0001a0002c0003t0001a0004c0007t0001others(1): Show | a0001c0001t0001g0047a0001c0001t0001g0103a0001c0001t0001g0105others(9): Show | 18 | 360 | 0.0500 | 27 | c.516 others(44): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 35/39 | chr17 | TogoVar | ||||||
MYH6_chr14_23376987_23413273 | 23397940 | C | CTTCTTCT others(20): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02735.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0076a0004c0003t0001g0077 | 2 | 370 | 0.0054 | 27 | c.189 others(44): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | ||||||
MYL6B_chr12_56147587_56162982 | 56158227 | G | GTTACTAT others(20): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 360 | 0.0028 | 27 | c.*35 others(36): Show |
MYL6B | ENSG00000196465.11 | transcript | ENST00000695999.1 | protein_coding | 246 | chr12 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2725555 | C | CAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0323a0001c0001t0018g0337 | 2 | 384 | 0.0052 | 27 | c.159 others(46): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATATA others(20): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01123.hp1 others(36): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0007a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(12): Show | 39 | 350 | 0.1114 | 27 | c.-28 others(38): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770651 | T | TATATCAT others(20): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0071others(1): Show | 4 | 350 | 0.0114 | 27 | c.-28 others(38): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2744 | chr3 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169771300 | T | TATAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0037 | 2 | 350 | 0.0057 | 27 | c.-21 others(38): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2095 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16796442 | C | CGAAAGAA others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01261.hp2 |
a0003 | a0003c0007 | a0003c0007t0097a0003c0007t0098 | a0003c0007t0097g0064a0003c0007t0098g0167 | 2 | 272 | 0.0074 | 27 | c.280 others(44): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 3/40 | chr5 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023213 | G | GTATATAT others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 NA19011.hp2 |
a0014a0031 | a0014c0057a0031c0027 | a0014c0057t0001a0031c0027t0010 | a0014c0057t0001g0023a0031c0027t0010g0081 | 2 | 152 | 0.0132 | 27 | c.279 others(46): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |