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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTUS2_chr13_28815339_29510947 | 29375526 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00621.hp1 others(19): Show |
a0001a0006a0008others(3): Show | a0001c0001a0006c0006a0008c0023others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0040a0001c0001t0001g0044a0001c0001t0001g0047others(19): Show | 22 | 92 | 0.2391 | -19 | c.311 others(40): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | chr13 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 101017732 | CGGGACTC others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01928.hp1 others(57): Show |
a0004a0005a0035others(48): Show | a0004c0012a0005c0003a0035c0020others(49): Show | a0004c0012t0001a0005c0003t0001a0035c0020t0001others(49): Show | a0004c0012t0001g0287a0004c0012t0001g0288a0005c0003t0001g0003others(55): Show | 60 | 342 | 0.1754 | -19 | c.159 others(37): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MUC17_chr7_101015081_101063859 | 101017732 | CGGGACTC others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01928.hp1 others(63): Show |
a0004a0006a0020others(22): Show | a0004c0004a0004c0015a0004c0028others(31): Show | a0004c0004t0001a0004c0004t0003a0004c0015t0003others(33): Show | a0004c0004t0001g0123a0004c0004t0003g0005a0004c0004t0003g0008others(60): Show | 66 | 366 | 0.1803 | -19 | c.-24 others(30): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 2348 | chr7 | TogoVar | ||||||
MUC21_chr6_30978718_30994903 | 30984828 | AGCCTGGC others(12): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 |
a0011 | a0011c0015 | a0011c0015t0022 | a0011c0015t0022g0024 | 2 | 448 | 0.0045 | -19 | c.61+ others(32): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195742696 | ATTTTTTT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0072 | a0072c0173 | a0072c0173t0004 | a0072c0173t0004g0225 | 1 | 249 | 0.0040 | -19 | c.*44 others(30): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4074 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195754023 | GCCTGCCT others(12): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0167 | a0167c0054 | a0167c0054t0001 | a0167c0054t0001g0110 | 1 | 249 | 0.0040 | -19 | c.153 others(38): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 19/24 | chr3 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701671 | TTTTATTT others(12): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0027 | 1 | 326 | 0.0031 | -19 | c.628 others(36): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126399007 | AAAGCAGG others(12): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0135 | 1 | 318 | 0.0031 | -19 | c.662 others(36): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126420561 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01069.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0101a0001c0001t0001g0102others(35): Show | 39 | 318 | 0.1226 | -19 | c.663 others(36): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126509316 | CTCTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0162a0001c0002t0021g0163 | 2 | 318 | 0.0063 | -19 | c.*60 others(30): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2277 | chr9 | TogoVar | ||||||
MX1_chr21_41421239_41464212 | 41448926 | GGTTTTGT others(12): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01255.hp1 others(25): Show |
a0001a0002 | a0001c0002a0001c0015a0002c0007 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(4): Show | a0001c0002t0003g0035a0001c0002t0003g0038a0001c0002t0003g0042others(20): Show | 28 | 408 | 0.0686 | -19 | c.127 others(36): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110227254 | TGTGCGGG others(12): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0025 | 1 | 372 | 0.0027 | -19 | c.275 others(34): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA8_chr1_1347691_1363555 | 1347979 | CCAAGAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | -19 | c.*56 others(30): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 4711 | chr1 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878645 | AAAAAAAT others(12): Show |
A | downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 378 | 0.0027 | -19 | c.*41 others(30): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2211 | chr19 | TogoVar | ||||||
MYBL2_chr20_43662114_43721482 | 43698351 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01071.hp1 others(35): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0129a0001c0001t0001g0133others(34): Show | 38 | 274 | 0.1387 | -19 | c.664 others(36): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYB_chr6_135176308_135224172 | 135181106 | TCGCGGCG others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0175 | 1 | 400 | 0.0025 | -19 | c.-40 others(28): Show |
MYB | ENSG00000118513.21 | transcript | ENST00000341911.10 | protein_coding | 201 | chr6 | TogoVar | ||||||
MYB_chr6_135176308_135224172 | 135212224 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18957.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0139 | 2 | 400 | 0.0050 | -19 | c.217 others(38): Show |
MYB | ENSG00000118513.21 | transcript | ENST00000341911.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYD88_chr3_38133661_38148022 | 38144845 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 408 | 0.0025 | -19 | c.*35 others(30): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1824 | chr3 | TogoVar | ||||||
MYD88_chr3_38133661_38148022 | 38144847 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 408 | 0.0025 | -19 | c.*35 others(30): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1826 | chr3 | TogoVar | ||||||
MYD88_chr3_38133661_38148022 | 38144851 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 408 | 0.0025 | -19 | c.*35 others(30): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1830 | chr3 | TogoVar | ||||||
MYD88_chr3_38133661_38148022 | 38144853 | AAAAAAAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01258.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0001a0001c0003t0003g0001 | 2 | 408 | 0.0049 | -19 | c.*35 others(30): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1832 | chr3 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8524449 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG02145.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0002g0245a0001c0001t0004g0020a0001c0002t0002g0147others(3): Show | 6 | 274 | 0.0219 | -19 | c.195 others(38): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 17/42 | chr17 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15806279 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(60): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0004others(23): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0002others(27): Show | a0001c0002t0001g0011a0001c0002t0001g0069a0001c0002t0001g0071others(60): Show | 63 | 297 | 0.2121 | -19 | c.503 others(36): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 3/40 | chr16 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01433.hp1 NA18522.hp2 |
a0002a0006 | a0002c0001a0006c0068 | a0002c0001t0001a0006c0068t0001 | a0002c0001t0001g0004a0002c0001t0001g0335a0006c0068t0001g0366 | 3 | 382 | 0.0079 | -19 | c.*52 others(28): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10323777 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0089 | a0001c0089t0001 | a0001c0089t0001g0184 | 1 | 382 | 0.0026 | -19 | c.293 others(36): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10323780 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0119 | a0001c0119t0001 | a0001c0119t0001g0274 | 1 | 382 | 0.0026 | -19 | c.293 others(36): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | ||||||
MYH14_chr19_50198622_50315540 | 50210037 | GCAGTGAG others(12): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG03209.hp1 HG03486.hp1 |
a0004a0011 | a0004c0075a0004c0078a0011c0076 | a0004c0075t0001a0004c0078t0001a0011c0076t0001 | a0004c0075t0001g0271a0004c0078t0001g0095a0011c0076t0001g0272 | 3 | 298 | 0.0101 | -19 | c.-3- others(32): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYH14_chr19_50198622_50315540 | 50245428 | AAAAAGAA others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 |
a0001a0013 | a0001c0088a0013c0089 | a0001c0088t0001a0013c0089t0001 | a0001c0088t0001g0186a0013c0089t0001g0185 | 2 | 298 | 0.0067 | -19 | c.121 others(38): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 11/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYH15_chr3_108375368_108515596 | 108427598 | GACACACA others(12): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp2 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0051a0001c0001t0001g0131others(57): Show | 62 | 306 | 0.2026 | -19 | c.370 others(36): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 27/40 | chr3 | TogoVar | ||||||
MYH4_chr17_10438290_10474559 | 10446499 | GCCATTGT others(12): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0050 | 1 | 338 | 0.0030 | -19 | c.516 others(36): Show |
MYH4 | ENSG00000264424.1 | transcript | ENST00000255381.2 | protein_coding | 35/39 | chr17 | TogoVar | ||||||
MYH9_chr22_36276280_36392967 | 36344439 | GAGGCAGC others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0050a0001c0001t0001g0062a0001c0001t0001g0115others(129): Show | 132 | 242 | 0.5455 | -19 | c.334 others(36): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 2/40 | chr22 | TogoVar | ||||||
MYL5_chr4_669542_687028 | 669553 | GCCATGCT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0001 | 1 | 412 | 0.0024 | -19 | c.-53 others(30): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 4988 | chr4 | TogoVar | ||||||
MYL5_chr4_669542_687028 | 669647 | CCCATGCT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0002a0001c0001t0004g0018a0001c0001t0004g0145others(1): Show | 5 | 412 | 0.0121 | -19 | c.-52 others(30): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 4894 | chr4 | TogoVar | ||||||
MYL5_chr4_669542_687028 | 669666 | GCCATGCT others(12): Show |
G | upstream_gene_variant | MODIFIER | NA18945.hp1 NA19009.hp1 NA19062.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0073a0002c0002t0001g0082 | 3 | 412 | 0.0073 | -19 | c.-52 others(30): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 4875 | chr4 | TogoVar | ||||||
MYL5_chr4_669542_687028 | 681701 | CCCCGCCC others(12): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 412 | 0.0024 | -19 | c.421 others(34): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MYLK_chr3_123605049_123889332 | 123607916 | TATATATA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0019 | 1 | 156 | 0.0064 | -19 | c.*61 others(30): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2132 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16663328 | GTTTTTTT others(12): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 NA19002.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0132a0002c0002t0133 | a0001c0001t0132g0259a0002c0002t0133g0145 | 2 | 272 | 0.0074 | -19 | c.*33 others(30): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 41/41 | 3345 | chr5 | TogoVar | |||||
MYO10_chr5_16656907_16941288 | 16821443 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(47): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0038others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(43): Show | a0001c0001t0001g0180a0001c0001t0003g0030a0001c0001t0003g0073others(47): Show | 50 | 272 | 0.1838 | -19 | c.121 others(36): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16894024 | TTTTAGAT others(12): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02895.hp1 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0015a0001c0044others(4): Show | a0001c0001t0020a0001c0001t0087a0001c0015t0131others(5): Show | a0001c0001t0020g0215a0001c0001t0087g0011a0001c0015t0131g0015others(5): Show | 8 | 272 | 0.0294 | -19 | c.22- others(36): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO15B_chr17_75582800_75631849 | 75601876 | TATGGAGA others(12): Show |
T | intron_variant | MODIFIER | NA18987.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0236 | 1 | 384 | 0.0026 | -19 | c.365 others(36): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 15/63 | chr17 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108636345 | CCTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 152 | 0.0066 | -19 | c.28+ others(34): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 1/34 | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108636346 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01243.hp1 others(6): Show |
a0001a0002a0003others(5): Show | a0001c0007a0002c0001a0003c0004others(5): Show | a0001c0007t0006a0002c0001t0001a0003c0004t0002others(5): Show | a0001c0007t0006g0055a0001c0007t0006g0056a0002c0001t0001g0053others(6): Show | 9 | 152 | 0.0592 | -19 | c.28+ others(34): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108754192 | GGACAAGC others(12): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02717.hp1 others(6): Show |
a0001a0006a0007others(3): Show | a0001c0002a0001c0008a0001c0016others(6): Show | a0001c0002t0001a0001c0008t0004a0001c0016t0001others(6): Show | a0001c0002t0001g0012a0001c0008t0004g0019a0001c0016t0001g0025others(6): Show | 9 | 152 | 0.0592 | -19 | c.507 others(38): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108869731 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp1 |
a0001a0002 | a0001c0045a0002c0069 | a0001c0045t0007a0002c0069t0022 | a0001c0045t0007g0051a0002c0069t0022g0073 | 2 | 152 | 0.0132 | -19 | c.142 others(38): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109175817 | CTCCAACA others(12): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(33): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0008a0001c0024others(18): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0012others(25): Show | a0001c0002t0001g0007a0001c0002t0001g0034a0001c0002t0001g0045others(33): Show | 36 | 152 | 0.2368 | -19 | c.532 others(38): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25753144 | CAAGCGCT others(12): Show |
C | intron_variant | MODIFIER | HG03516.hp2 NA18522.hp2 NA18906.hp1 |
a0012a0034a0077 | a0012c0138a0034c0124a0077c0125 | a0012c0138t0001a0034c0124t0002a0077c0125t0001 | a0012c0138t0001g0013a0034c0124t0002g0015a0077c0125t0001g0014 | 3 | 228 | 0.0132 | -19 | c.-10 others(38): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25780608 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 228 | 0.0044 | -19 | c.221 others(36): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25814294 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG02083.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0069a0002c0002others(5): Show | a0001c0001t0001a0001c0069t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0218a0001c0069t0001g0032a0002c0002t0001g0042others(6): Show | 9 | 228 | 0.0395 | -19 | c.252 others(38): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25990708 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0062 | a0006c0062t0001 | a0006c0062t0001g0228 | 1 | 228 | 0.0044 | -19 | c.615 others(38): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO1A_chr12_57023517_57055129 | 57054724 | ATAGGCAG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 348 | 0.0029 | -19 | c.-48 others(30): Show |
MYO1A | ENSG00000166866.13 | transcript | ENST00000300119.8 | protein_coding | 4596 | chr12 | TogoVar |