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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTA3_chr2_42563632_42761946 | 42594728 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 63 | 0.0159 | 23 | c.191 others(42): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTA3_chr2_42563632_42761946 | 42745824 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0030 others(21): Show |
24 | 169 | 0.1420 | 23 | c.176 others(42): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MTAP_chr9_21797636_21872081 | 21802985 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18967.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008 | a0001c0001t0001g0211 a0002c0002t0008g0309 |
2 | 20 | 0.1000 | 23 | c.33+ others(36): Show |
MTAP | ENSG00000099810.21 | transcript | ENST00000644715.2 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
MTCH2_chr11_47612317_47647559 | 47633527 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 2 | 292 | 0.0068 | 23 | c.369 others(40): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 5/12 | chr11 | TogoVar | |||||||
MTCL1_chr18_8700556_8837778 | 8775408 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0017 | a0017c0127 | a0017c0127t0001 | a0017c0127t0001g0064 | 1 | 299 | 0.0033 | 23 | c.143 others(42): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0168 | 1 | 177 | 0.0056 | 23 | c.104 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0254 a0001c0001t0018g0136 |
2 | 178 | 0.0112 | 23 | c.104 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97708581 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0181 a0001c0001t0006g0182 |
2 | 59 | 0.0339 | 23 | c.127 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTERF1_chr7_91865929_91885702 | 91867418 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 2 | 79 | 0.0253 | 23 | c.*61 others(34): Show |
MTERF1 | ENSG00000127989.14 | transcript | ENST00000351870.8 | protein_coding | 3510 | chr7 | TogoVar | |||||||
MTF1_chr1_37804574_37864592 | 37838797 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01952.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006a0001c0002t0008others(1): Show | a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0246 others(8): Show |
11 | 169 | 0.0651 | 23 | c.648 others(36): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
MTG1_chr10_133389157_133427520 | 133397779 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0236 | 1 | 228 | 0.0044 | 23 | c.283 others(38): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150998995 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02723.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0060 a0001c0001t0002g0097 a0001c0001t0003g0169 |
3 | 172 | 0.0174 | 23 | c.212 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD2L_chr4_74153118_74308099 | 74291003 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 3 | 0.3333 | 23 | c.931 others(40): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTIF2_chr2_55231595_55274231 | 55236019 | T | TAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 27 | 0.0370 | 23 | c.*62 others(32): Show |
MTIF2 | ENSG00000085760.15 | transcript | ENST00000263629.9 | protein_coding | 575 | chr2 | TogoVar | |||||||
MTIF2_chr2_55231595_55274231 | 55272821 | T | TATATATA others(16): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 53 | 0.0189 | 23 | c.-38 others(34): Show |
MTIF2 | ENSG00000085760.15 | transcript | ENST00000263629.9 | protein_coding | 3591 | chr2 | TogoVar | |||||||
MTMR7_chr8_17291794_17418351 | 17366885 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0093 | 1 | 281 | 0.0036 | 23 | c.310 others(40): Show |
MTMR7 | ENSG00000003987.14 | transcript | ENST00000180173.10 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTMR8_chrX_64263081_64400452 | 64289636 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 80 | 0.0125 | 23 | c.148 others(44): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | |||||||
MTOR_chr1_11101535_11267551 | 11221696 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0137 a0001c0008t0001g0138 a0001c0008t0001g0139 others(2): Show |
5 | 254 | 0.0197 | 23 | c.303 others(42): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 19/57 | chr1 | TogoVar | |||||||
MTRF1_chr13_41211369_41268576 | 41259702 | A | AAAAAAAC others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(131): Show |
a0001a0007 | a0001c0001a0001c0010a0007c0009 | a0001c0001t0001a0001c0001t0006a0001c0010t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(110): Show |
134 | 320 | 0.4188 | 23 | c.415 others(38): Show |
MTRF1 | ENSG00000120662.16 | transcript | ENST00000379480.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
MTRR_chr5_7864148_7906113 | 7889472 | G | GCCCTTCC others(16): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0008 | a0008c0009 | a0008c0009t0003 | a0008c0009t0003g0139 | 1 | 426 | 0.0023 | 23 | c.132 others(40): Show |
MTRR | ENSG00000124275.15 | transcript | ENST00000440940.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MTSS1_chr8_124545784_124733473 | 124605535 | A | AGCCCTCG others(16): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0068 | 1 | 282 | 0.0035 | 23 | c.209 others(42): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124605544 | A | ACTGCCTC others(16): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03098.hp2 HG04199.hp1 others(1): Show |
a0001a0003a0008 | a0001c0001a0003c0010a0008c0014 | a0001c0001t0002a0001c0001t0006a0003c0010t0001others(1): Show | a0001c0001t0002g0043 a0001c0001t0006g0002 a0003c0010t0001g0046 others(1): Show |
4 | 259 | 0.0154 | 23 | c.209 others(42): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124605544 | A | ACTGCCTC others(16): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01081.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0087 a0001c0001t0001g0120 others(6): Show |
9 | 264 | 0.0341 | 23 | c.209 others(42): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124605565 | T | TCGCTGCC others(16): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18522.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0165 a0002c0002t0007g0171 |
2 | 248 | 0.0081 | 23 | c.209 others(42): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124605611 | G | GCGCTGCC others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG01515.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0185 a0001c0001t0001g0224 others(14): Show |
17 | 227 | 0.0749 | 23 | c.209 others(42): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124605634 | G | GCGCTGCC others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG03130.hp2 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0003 | a0001c0006t0001g0152 a0002c0002t0003g0073 a0002c0002t0003g0153 |
3 | 169 | 0.0178 | 23 | c.209 others(42): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99580574 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 64 | 0.0156 | 23 | c.62- others(38): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(16): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 NA18979.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0005t0002 | a0001c0001t0006g0301 a0001c0005t0002g0164 |
2 | 34 | 0.0588 | 23 | c.*40 others(34): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17641898 | C | CCCGCCCC others(16): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0027 | a0004c0027t0043 | a0004c0027t0043g0313 | 1 | 322 | 0.0031 | 23 | c.*40 others(34): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1903 | chr8 | TogoVar | |||||||
MUC21_chr6_30978718_30994903 | 30980984 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG03239.hp1 HG03927.hp1 others(5): Show |
a0003a0009 | a0003c0005a0009c0013 | a0003c0005t0010a0003c0005t0019a0003c0005t0032others(1): Show | a0003c0005t0010g0007 a0003c0005t0019g0007 a0003c0005t0032g0007 others(1): Show |
8 | 181 | 0.0442 | 23 | c.-29 others(34): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2733 | chr6 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195745524 | T | TATATATA others(16): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02976.hp2 |
a0058a0081 | a0058c0162a0081c0158 | a0058c0162t0009a0081c0158t0009 | a0058c0162t0009g0237 a0081c0158t0009g0244 |
2 | 233 | 0.0086 | 23 | c.*16 others(34): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1246 | chr3 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1039960 | C | CCCCTGCC others(16): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01978.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0018a0001c0087 | a0001c0018t0002a0001c0087t0002 | a0001c0018t0002g0009 a0001c0087t0002g0259 |
5 | 404 | 0.0124 | 23 | c.-33 others(34): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 3243 | chr11 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110755937 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 266 | 0.0038 | 23 | c.914 others(40): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110755937 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(40): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0146 others(40): Show |
43 | 308 | 0.1396 | 23 | c.914 others(40): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843556 | G | GGGAGGAA others(16): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 228 | 0.0044 | 23 | c.163 others(40): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0032 | a0001c0001t0002g0300 a0001c0001t0002g0338 a0001c0001t0002g0340 others(3): Show |
6 | 10 | 0.6000 | 23 | c.274 others(40): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110226836 | T | TGAGGGGA others(16): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 370 | 0.0027 | 23 | c.275 others(40): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3329308 | G | GGAAGGAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
a0002a0005a0020others(1): Show | a0002c0026a0005c0005a0005c0043others(2): Show | a0002c0026t0001a0005c0005t0002a0005c0043t0002others(2): Show | a0002c0026t0001g0145 a0005c0005t0002g0126 a0005c0005t0002g0150 others(7): Show |
10 | 282 | 0.0355 | 23 | c.709 others(38): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878650 | A | AAAAAAAT others(16): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 334 | 0.0030 | 23 | c.*41 others(34): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2216 | chr19 | TogoVar | |||||||
MYBBP1A_chr17_4533904_4560384 | 4540924 | A | AGGCCCCG others(16): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0236 | 1 | 341 | 0.0029 | 23 | c.329 others(40): Show |
MYBBP1A | ENSG00000132382.15 | transcript | ENST00000254718.9 | protein_coding | 24/25 | chr17 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348927 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0275 | 1 | 362 | 0.0028 | 23 | c.655 others(38): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYB_chr6_135176308_135224172 | 135211528 | A | AGATAGAA others(16): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088 a0001c0001t0002g0104 |
2 | 398 | 0.0050 | 23 | c.217 others(42): Show |
MYB | ENSG00000118513.21 | transcript | ENST00000341911.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77286787 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 188 | 0.0053 | 23 | c.594 others(40): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 103 | 0.0097 | 23 | c.594 others(40): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0017 | a0017c0028 | a0017c0028t0001 | a0017c0028t0001g0278 | 1 | 86 | 0.0116 | 23 | c.125 others(40): 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(16): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0061 | 1 | 86 | 0.0116 | 23 | c.125 others(40): 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(16): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0309 | 1 | 86 | 0.0116 | 23 | c.125 others(40): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03579.hp1 |
a0018a0025 | a0018c0018a0025c0026 | a0018c0018t0001a0025c0026t0001 | a0018c0018t0001g0310 a0025c0026t0001g0280 |
2 | 87 | 0.0230 | 23 | c.125 others(40): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0018 | a0018c0018 | a0018c0018t0001 | a0018c0018t0001g0051 | 1 | 86 | 0.0116 | 23 | c.125 others(40): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCN_chr2_15935550_15952004 | 15939542 | G | GTTTGGAA others(16): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 434 | 0.0023 | 23 | c.-13 others(34): Show |
MYCN | ENSG00000134323.13 | transcript | ENST00000281043.4 | protein_coding | 1007 | chr2 | TogoVar |