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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MLPH_chr2_237482251_237560322 | 237543232 | GGGCACAG others(43): Show |
G | intron_variant | MODIFIER | NA18957.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0270 | 1 | 282 | 0.0035 | -50 | c.153 others(67): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543520 | GGTGAGTG others(43): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02132.hp1 NA18951.hp2 |
a0001a0035 | a0001c0001a0035c0036 | a0001c0001t0001a0001c0001t0004a0035c0036t0001 | a0001c0001t0001g0215 a0001c0001t0004g0138 a0035c0036t0001g0182 |
3 | 279 | 0.0108 | -50 | c.153 others(67): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543710 | GGTGAGTG others(43): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA18522.hp1 |
a0008a0033 | a0008c0011a0033c0032 | a0008c0011t0001a0033c0032t0002 | a0008c0011t0001g0092 a0033c0032t0002g0052 |
2 | 273 | 0.0073 | -50 | c.153 others(69): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543752 | GGCACGGT others(43): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 280 | 0.0036 | -50 | c.153 others(69): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543978 | GACAGTGG others(43): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0259 | 1 | 281 | 0.0036 | -50 | c.153 others(69): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543992 | GGCACGGT others(43): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0091 | 1 | 283 | 0.0035 | -50 | c.153 others(69): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544067 | AGTGGTGA others(43): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0014 | a0014c0020 | a0014c0020t0002 | a0014c0020t0002g0172 | 1 | 279 | 0.0036 | -50 | c.153 others(69): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544823 | GGGGGACA others(43): Show |
G | intron_variant | MODIFIER | NA18971.hp1 NA18979.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0036 a0002c0002t0002g0058 |
2 | 267 | 0.0075 | -50 | c.154 others(69): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544883 | GGTGAGTG others(43): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02486.hp1 |
a0005a0030 | a0005c0004a0030c0028 | a0005c0004t0001a0030c0028t0001 | a0005c0004t0001g0018 a0030c0028t0001g0131 |
2 | 278 | 0.0072 | -50 | c.154 others(69): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MMD2_chr7_4900998_4964187 | 4959777 | GGTTGGGG others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0267 a0001c0001t0008g0266 a0001c0001t0008g0272 |
3 | 380 | 0.0079 | -50 | c.-81 others(59): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 591 | chr7 | TogoVar | |||||||
MOB1A_chr2_74147528_74183879 | 74182155 | CTGTGACA others(43): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 400 | 0.0025 | -50 | c.-35 others(61): Show |
MOB1A | ENSG00000114978.18 | transcript | ENST00000396049.5 | protein_coding | 3277 | chr2 | TogoVar | |||||||
MOXD1_chr6_132291055_132406475 | 132349402 | TATACATA others(43): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG02280.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0022 a0001c0001t0001g0131 a0001c0001t0001g0278 others(3): Show |
6 | 314 | 0.0191 | -50 | c.664 others(69): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 4/11 | chr6 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43499068 | TGGAGGTG others(43): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 248 | 0.0040 | -50 | c.748 others(65): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
MRNIP_chr5_179832276_179863817 | 179849594 | CTACGAGA others(43): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 441 | 0.0023 | -50 | c.127 others(67): Show |
MRNIP | ENSG00000161010.16 | transcript | ENST00000292586.11 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
MRNIP_chr5_179832276_179863817 | 179849866 | ACGGGTCC others(43): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(255): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0005c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(200): Show |
258 | 442 | 0.5837 | -50 | c.127 others(67): Show |
MRNIP | ENSG00000161010.16 | transcript | ENST00000292586.11 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
MRPS2_chr9_135495682_135509671 | 135506781 | CCCTCTGC others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01261.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0004g0010 others(13): Show |
49 | 404 | 0.1213 | -50 | c.*26 others(61): Show |
MRPS2 | ENSG00000122140.13 | transcript | ENST00000241600.10 | protein_coding | 2111 | chr9 | TogoVar | |||||||
MS4A14_chr11_60391459_60422756 | 60418985 | ATATATAT others(43): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01192.hp2 HG01928.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0124 a0002c0002t0003g0012 a0002c0002t0003g0121 others(1): Show |
10 | 424 | 0.0236 | -50 | c.*19 others(61): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1230 | chr11 | TogoVar | |||||||
MS4A14_chr11_60391459_60422756 | 60421393 | ATATAGAA others(43): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 NA18962.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 | 2 | 426 | 0.0047 | -50 | c.*43 others(61): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 3638 | chr11 | TogoVar | |||||||
MS4A4E_chr11_60195270_60248137 | 60201224 | GGCTGGCC others(43): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0266 | 1 | 408 | 0.0025 | -50 | c.*26 others(59): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 9/9 | 269 | chr11 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80692250 | ATAGATAG others(43): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0021 | 1 | 322 | 0.0031 | -50 | c.134 others(71): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75902673 | GTATATAT others(43): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 14 | 0.0714 | -50 | c.261 others(69): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16102987 | ATACATGT others(43): Show |
A | downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0306 | 1 | 294 | 0.0034 | -50 | c.*70 others(61): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 4893 | chr8 | TogoVar | |||||||
MT4_chr16_56560073_56573957 | 56568221 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02280.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0030 |
3 | 424 | 0.0071 | -50 | c.97+ others(63): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62204365 | TGTGTGTG others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0255 a0001c0001t0015g0256 |
2 | 404 | 0.0050 | -50 | c.*32 others(61): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 798 | chr20 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 151090921 | TCCATGCG others(43): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG02647.hp1 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0124 others(10): Show |
13 | 223 | 0.0583 | -50 | c.284 others(69): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1009427 | GACACGCA others(43): Show |
G | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0004 | a0004c0024 | a0004c0024t0002 | a0004c0024t0002g0050 | 1 | 404 | 0.0025 | -50 | c.*39 others(61): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 3395 | chr11 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1009439 | GTGACCCC others(43): Show |
G | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0177 | a0003c0177t0001 | a0003c0177t0001g0147 | 1 | 404 | 0.0025 | -50 | c.*39 others(61): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 3383 | chr11 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1009539 | GCGACCCA others(43): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01978.hp2 others(6): Show |
a0001a0003a0010 | a0001c0006a0001c0018a0001c0087others(2): Show | a0001c0006t0002a0001c0018t0002a0001c0087t0002others(2): Show | a0001c0006t0002g0015 a0001c0018t0002g0009 a0001c0087t0002g0259 others(3): Show |
9 | 401 | 0.0224 | -50 | c.*38 others(61): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 3283 | chr11 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110701685 | CTTTACTT others(43): Show |
C | intron_variant | MODIFIER | HG03239.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0290 a0001c0001t0003g0272 |
2 | 258 | 0.0078 | -50 | c.628 others(67): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4672168 | CATATATT others(43): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02572.hp2 others(8): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0002 | a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0090 others(8): Show |
11 | 400 | 0.0275 | -50 | c.-18 others(61): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1827 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672247 | ATATATTC others(43): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02970.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0048 a0002c0003t0002g0049 |
2 | 400 | 0.0050 | -50 | c.-19 others(61): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1906 | chr19 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15775388 | TTGGTTTA others(43): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(3): Show |
a0001a0012 | a0001c0013a0001c0029a0001c0032others(2): Show | a0001c0013t0001a0001c0029t0001a0001c0032t0001others(2): Show | a0001c0013t0001g0111 a0001c0029t0001g0184 a0001c0029t0001g0190 others(3): Show |
6 | 296 | 0.0203 | -50 | c.889 others(65): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 8/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15775407 | TGCTCATT others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(119): Show |
a0001a0002a0006others(9): Show | a0001c0002a0001c0003a0001c0004others(29): Show | a0001c0002t0001a0001c0002t0008a0001c0003t0001others(37): Show | a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0023 others(119): Show |
122 | 296 | 0.4122 | -50 | c.889 others(65): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 8/40 | chr16 | TogoVar | |||||||
MYH7B_chr20_34950868_35007437 | 35000809 | CTTGGCCC others(43): Show |
C | frameshift_variant | HIGH | NA18990.hp2 | a0026 | a0026c0022 | a0026c0022t0001 | a0026c0022t0001g0117 | 1 | 336 | 0.0030 | -50 | c.522 others(59): Show |
p.Leu others(6): Show |
MYH7B | ENSG00000078814.19 | transcript | ENST00000262873.13 | protein_coding | 40/45 | 5697/6551 | 5221/5826 | 1741/1941 | chr20 | TogoVar | |||
MYMK_chr9_133509586_133529959 | 133512099 | CATGTATG others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(260): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(104): Show |
263 | 452 | 0.5819 | -50 | c.*24 others(61): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 2486 | chr9 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770632 | ATATAAAA others(43): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0080 a0001c0001t0004g0081 others(1): Show |
12 | 347 | 0.0346 | -50 | c.-28 others(61): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2763 | chr3 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 108997314 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG03490.hp2 NA20752.hp1 |
a0001a0007a0013 | a0001c0017a0007c0014a0013c0011 | a0001c0017t0020a0007c0014t0002a0013c0011t0001 | a0001c0017t0020g0111 a0007c0014t0002g0054 a0013c0011t0001g0121 |
3 | 64 | 0.0469 | -50 | c.244 others(69): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108997318 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01943.hp1 HG02280.hp2 others(17): Show |
a0001a0003a0007others(3): Show | a0001c0002a0001c0005a0001c0008others(10): Show | a0001c0002t0001a0001c0002t0015a0001c0005t0001others(12): Show | a0001c0002t0001g0043 a0001c0002t0015g0038 a0001c0005t0001g0015 others(17): Show |
20 | 135 | 0.1481 | -50 | c.244 others(69): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108997322 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0028 | 1 | 148 | 0.0068 | -50 | c.244 others(69): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574545 | TTCTTTCT others(43): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00642.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0194 others(31): Show |
34 | 340 | 0.1000 | -50 | c.3+2 others(63): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO5C_chr15_52187322_52300804 | 52286268 | TGGGGGTC others(43): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0163 a0002c0002t0006g0164 |
2 | 358 | 0.0056 | -50 | c.28- others(65): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72100869 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0206 | 1 | 294 | 0.0034 | -50 | c.-72 others(69): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 72101652 | GCCCCGCC others(43): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 |
a0021a0022 | a0021c0030a0022c0031 | a0021c0030t0018a0022c0031t0018 | a0021c0030t0018g0018 a0022c0031t0018g0017 |
2 | 305 | 0.0066 | -50 | c.-72 others(69): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086153 | CCCCCACT others(43): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0122 | a0002c0122t0001 | a0002c0122t0001g0194 | 1 | 384 | 0.0026 | -50 | c.164 others(67): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086174 | CGTGGCCC others(43): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02523.hp1 HG02723.hp1 others(1): Show |
a0002a0025a0058 | a0002c0017a0002c0068a0025c0059others(1): Show | a0002c0017t0001a0002c0068t0001a0025c0059t0001others(1): Show | a0002c0017t0001g0235 a0002c0068t0001g0124 a0025c0059t0001g0095 others(1): Show |
4 | 383 | 0.0104 | -50 | c.164 others(67): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086208 | ACTGTCAT others(43): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0021 | a0021c0066 | a0021c0066t0005 | a0021c0066t0005g0276 | 1 | 402 | 0.0025 | -50 | c.164 others(67): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086228 | GCCCCCCA others(43): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0048 | a0048c0079 | a0048c0079t0001 | a0048c0079t0001g0017 | 1 | 394 | 0.0025 | -50 | c.164 others(67): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2130128 | ATACCCAG others(43): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0048 | a0002c0048t0003 | a0002c0048t0003g0200 | 1 | 402 | 0.0025 | -50 | c.380 others(67): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2130226 | GTATACCC others(43): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01255.hp2 HG02145.hp2 others(8): Show |
a0002 | a0002c0019a0002c0034a0002c0035others(4): Show | a0002c0019t0001a0002c0034t0001a0002c0035t0001others(4): Show | a0002c0019t0001g0116 a0002c0019t0001g0138 a0002c0019t0001g0180 others(8): Show |
11 | 401 | 0.0274 | -50 | c.380 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2130275 | CCTATACC others(43): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0013 | a0013c0181 | a0013c0181t0001 | a0013c0181t0001g0388 | 1 | 402 | 0.0025 | -50 | c.380 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |