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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTHFD1L_chr6_150860702_151106887 | 151090896 | C | CCCATGCG others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG02486.hp2 others(11): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0021a0001c0001t0001g0062a0001c0001t0001g0114others(11): Show | 14 | 226 | 0.0620 | 25 | c.284 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151090946 | T | TCCATGCG others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 226 | 0.0044 | 25 | c.284 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151091252 | C | CGACTAGG others(18): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0119a0001c0001t0001g0175a0001c0001t0006g0186 | 3 | 226 | 0.0133 | 25 | c.284 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151091252 | C | CGACTGGG others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02257.hp1 others(14): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0021a0001c0001t0001g0041a0001c0001t0001g0062others(14): Show | 17 | 226 | 0.0752 | 25 | c.284 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 151091252 | C | CGACTGGG others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0028others(102): Show | 105 | 226 | 0.4646 | 25 | c.284 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD2L_chr4_74153118_74308099 | 74291003 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 200 | 0.0050 | 25 | c.931 others(42): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MTHFD2_chr2_74193615_74222565 | 74220327 | A | AGTTGATC others(18): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0127a0001c0001t0007g0249a0001c0001t0010g0269others(1): Show | 4 | 414 | 0.0097 | 25 | c.*60 others(36): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 2763 | chr2 | TogoVar | ||||||
MTMR8_chrX_64263081_64400452 | 64362471 | G | GAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 190 | 0.0053 | 25 | c.25- others(40): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 1/13 | chrX | TogoVar | ||||||
MTRES1_chr6_107023199_107056586 | 107055355 | T | TTTTTTTA others(18): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 406 | 0.0025 | 25 | c.*41 others(36): Show |
MTRES1 | ENSG00000130349.10 | transcript | ENST00000311381.8 | protein_coding | 3770 | chr6 | TogoVar | ||||||
MTRF1_chr13_41211369_41268576 | 41259712 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0040a0001c0001t0001g0041others(4): Show | 9 | 332 | 0.0271 | 25 | c.415 others(40): Show |
MTRF1 | ENSG00000120662.16 | transcript | ENST00000379480.9 | protein_coding | 2/9 | chr13 | TogoVar | ||||||
MTSS1_chr8_124545784_124733473 | 124619932 | T | TTTTTCTT others(18): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02486.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0037a0001c0001t0001g0181a0001c0004t0001g0101others(2): Show | 5 | 286 | 0.0175 | 25 | c.209 others(44): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
MTSS2_chr16_70656204_70691053 | 70660839 | G | GGCCCAGC others(18): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0020 | 2 | 398 | 0.0050 | 25 | c.*28 others(36): Show |
MTSS2 | ENSG00000132613.16 | transcript | ENST00000338779.11 | protein_coding | 364 | chr16 | TogoVar | ||||||
MTSS2_chr16_70656204_70691053 | 70660839 | G | GGCCCAGC others(18): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG02074.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0006a0001c0001t0007a0001c0001t0020others(3): Show | a0001c0001t0006g0006a0001c0001t0007g0015a0001c0001t0020g0013others(3): Show | 6 | 398 | 0.0151 | 25 | c.*28 others(36): Show |
MTSS2 | ENSG00000132613.16 | transcript | ENST00000338779.11 | protein_coding | 364 | chr16 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99580574 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0112others(1): Show | 4 | 364 | 0.0110 | 25 | c.62- others(40): 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(18): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02965.hp2 HG03041.hp1 others(1): Show |
a0001a0006a0037 | a0001c0003a0001c0004a0006c0019others(1): Show | a0001c0003t0006a0001c0004t0002a0006c0019t0002others(1): Show | a0001c0003t0006g0207a0001c0004t0002g0112a0006c0019t0002g0039others(1): Show | 4 | 330 | 0.0121 | 25 | c.*40 others(36): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(18): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0153 | 1 | 330 | 0.0030 | 25 | c.*40 others(36): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29071409 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 92 | 0.0109 | 25 | c.244 others(46): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC12_chr7_100964565_101023936 | 100966243 | A | AGACCAGT others(18): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01243.hp2 others(24): Show |
a0002a0004a0015others(19): Show | a0002c0004a0004c0012a0015c0240others(19): Show | a0002c0004t0001a0004c0012t0001a0015c0240t0001others(19): Show | a0002c0004t0001g0001a0002c0004t0001g0046a0002c0004t0001g0054others(23): Show | 27 | 342 | 0.0790 | 25 | c.-33 others(36): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 3321 | chr7 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100966243 | A | AGACCCGT others(18): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(228): Show |
a0001a0002a0003others(179): Show | a0001c0001a0001c0168a0001c0181others(189): Show | a0001c0001t0001a0001c0168t0001a0001c0181t0001others(190): Show | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0197others(219): Show | 231 | 342 | 0.6754 | 25 | c.-33 others(36): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 3321 | chr7 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100966243 | A | AGACCCGT others(18): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01168.hp1 HG01169.hp2 others(30): Show |
a0007a0016a0021others(23): Show | a0007c0008a0016c0035a0021c0022others(24): Show | a0007c0008t0001a0016c0035t0001a0021c0022t0001others(24): Show | a0007c0008t0001g0010a0007c0008t0001g0078a0016c0035t0001g0258others(29): Show | 33 | 342 | 0.0965 | 25 | c.-33 others(36): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 3321 | chr7 | TogoVar | ||||||
MUC13_chr3_124900442_124939751 | 124935846 | T | TGGATTTC others(18): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0049 | 1 | 452 | 0.0022 | 25 | c.-11 others(36): Show |
MUC13 | ENSG00000173702.7 | transcript | ENST00000616727.4 | protein_coding | 1096 | chr3 | TogoVar | ||||||
MUC21_chr6_30978718_30994903 | 30984996 | C | CAATAAAA others(18): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 448 | 0.0022 | 25 | c.61+ others(39): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MUC22_chr6_31005474_31040402 | 31024397 | A | ATCAGGTT others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(224): Show |
a0000a0001a0002others(67): Show | a0000c0116a0001c0011a0002c0006others(83): Show | a0000c0116t0001a0001c0011t0001a0002c0006t0001others(89): Show | a0000c0116t0001g0076a0001c0011t0001g0106a0002c0006t0001g0010others(153): Show | 227 | 461 | 0.4924 | 25 | c.71- others(40): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
MUC22_chr6_31005474_31040402 | 31024397 | A | ATCAGGTT others(18): Show |
intron_variant | MODIFIER | HG00621.hp2 HG03239.hp1 HG03669.hp2 others(9): Show |
a0004a0035a0040others(3): Show | a0004c0001a0004c0172a0035c0068others(6): Show | a0004c0001t0002a0004c0172t0002a0035c0068t0002others(6): Show | a0004c0001t0002g0012a0004c0001t0002g0181a0004c0172t0002g0012others(8): Show | 12 | 461 | 0.0260 | 25 | c.71- others(40): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1154866 | A | ATTCACTC others(18): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01109.hp1 others(13): Show |
a0001a0006a0058others(3): Show | a0001c0004a0001c0044a0001c0063others(6): Show | a0001c0004t0001a0001c0044t0001a0001c0063t0001others(6): Show | a0001c0004t0001g0149a0001c0004t0001g0181a0001c0004t0001g0182others(13): Show | 16 | 292 | 0.0548 | 25 | c.-31 others(36): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 3086 | chr11 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110681100 | A | AATATATA others(18): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 326 | 0.0031 | 25 | c.80- others(40): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110689674 | T | TATAATAT others(18): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG04204.hp1 others(9): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0001c0002t0002a0004c0006t0001others(1): Show | a0001c0002t0001g0099a0001c0002t0001g0122a0001c0002t0002g0093others(9): Show | 12 | 326 | 0.0368 | 25 | c.358 others(42): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110689916 | C | CATATTTA others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0004c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018a0001c0001t0001g0033a0001c0001t0001g0034others(41): Show | 44 | 326 | 0.1350 | 25 | c.358 others(42): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110701685 | C | CTTTATTT others(18): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0238 | 1 | 326 | 0.0031 | 25 | c.628 others(42): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110701690 | C | CTTTATTT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 NA20300.hp2 |
a0001a0012 | a0001c0001a0012c0023 | a0001c0001t0003a0012c0023t0003 | a0001c0001t0003g0223a0012c0023t0003g0224 | 2 | 326 | 0.0061 | 25 | c.628 others(42): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVD_chr16_88646940_88668091 | 88667038 | C | CGGCTCAC others(18): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(30): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0077a0001c0001t0001g0079a0001c0002t0001g0008others(17): Show | 33 | 434 | 0.0760 | 25 | c.-39 others(36): Show |
MVD | ENSG00000167508.12 | transcript | ENST00000301012.8 | protein_coding | 3948 | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29815724 | T | TAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0225 | 1 | 230 | 0.0044 | 25 | c.-48 others(36): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 4737 | chr16 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTG others(18): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03927.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0105a0001c0002t0009g0114 | 2 | 372 | 0.0054 | 25 | c.274 others(42): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214a0001c0001t0002g0305a0001c0001t0002g0348 | 3 | 372 | 0.0081 | 25 | c.274 others(42): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYBPC1_chr12_101589971_101691028 | 101591769 | C | CCTCTTCT others(18): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02258.hp1 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0004t0005a0002c0002t0001 | a0001c0001t0002g0026a0001c0004t0005g0030a0002c0002t0001g0013others(2): Show | 5 | 360 | 0.0139 | 25 | c.-33 others(36): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3201 | chr12 | TogoVar | ||||||
MYBPC3_chr11_47326406_47357702 | 47348927 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 374 | 0.0027 | 25 | c.655 others(40): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77285857 | G | GGGAAAGG others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 HG04199.hp2 NA18612.hp2 others(4): Show |
a0001 | a0001c0002a0001c0045 | a0001c0002t0001a0001c0045t0001 | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0105others(4): Show | 7 | 334 | 0.0210 | 25 | c.594 others(42): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77286787 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 334 | 0.0030 | 25 | c.594 others(42): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 334 | 0.0030 | 25 | c.594 others(42): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 376 | 0.0027 | 25 | c.125 others(42): 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(18): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18945.hp2 NA18961.hp1 others(8): Show |
a0001a0005a0017others(1): Show | a0001c0001a0005c0007a0017c0019others(1): Show | a0001c0001t0001a0005c0007t0001a0017c0019t0001others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0001g0067others(8): Show | 11 | 376 | 0.0293 | 25 | c.125 others(42): 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(18): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 |
a0002a0007 | a0002c0004a0007c0009 | a0002c0004t0001a0007c0009t0001 | a0002c0004t0001g0154a0007c0009t0001g0042 | 2 | 376 | 0.0053 | 25 | c.125 others(42): 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(18): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0170 | 1 | 376 | 0.0027 | 25 | c.125 others(42): 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(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0148a0002c0003t0001g0149 | 2 | 376 | 0.0053 | 25 | c.125 others(42): 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(18): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0331 | 1 | 376 | 0.0027 | 25 | c.125 others(42): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYH10_chr17_8469224_8635725 | 8585287 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 274 | 0.0037 | 25 | c.530 others(42): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 4/42 | chr17 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0006a0001c0009 | a0001c0006t0001a0001c0006t0004a0001c0009t0004 | a0001c0006t0001g0094a0001c0006t0001g0141a0001c0006t0001g0158others(2): Show | 5 | 297 | 0.0168 | 25 | c.578 others(44): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15788077 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02280.hp2 HG04199.hp2 NA19068.hp2 others(1): Show |
a0001 | a0001c0009a0001c0011a0001c0013 | a0001c0009t0001a0001c0011t0001a0001c0013t0014 | a0001c0009t0001g0250a0001c0009t0001g0272a0001c0011t0001g0174others(1): Show | 4 | 297 | 0.0135 | 25 | c.531 others(42): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15788095 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(22): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(11): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0002others(12): Show | a0001c0002t0001g0067a0001c0002t0001g0160a0001c0002t0001g0260others(22): Show | 25 | 297 | 0.0842 | 25 | c.531 others(42): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 4/40 | chr16 | TogoVar | ||||||
MYH1_chr17_10487307_10523542 | 10488898 | C | CTCTTCTC others(18): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 360 | 0.0028 | 25 | c.*35 others(36): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 3408 | chr17 | TogoVar |