| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCTCC others(225): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 252 | 0.0040 | 232 | c.10- others(249): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
| IRAK2_chr3_10159919_10248745 | 10224732 | C | CCATCCAT others(225): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0049 a0001c0001t0005g0271 |
2 | 292 | 0.0069 | 232 | c.121 others(251): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| IRAK2_chr3_10159919_10248745 | 10224736 | C | CCATCCAC others(225): Show |
intron_variant | MODIFIER | HG04199.hp1 NA20752.hp2 |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0001a0006c0009t0001 | a0002c0002t0001g0191 a0006c0009t0001g0127 |
2 | 292 | 0.0069 | 232 | c.121 others(251): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ITGB2_chr21_44880953_44925899 | 44918998 | T | TCCCCTCT others(225): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0412 | 1 | 444 | 0.0023 | 232 | c.-4+ others(247): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar | |||||||
| JAKMIP2_chr5_147580438_147787728 | 147764920 | A | AAGAAAGA others(225): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0003 | a0001c0003t0072 | a0001c0003t0072g0184 | 1 | 250 | 0.0040 | 232 | c.-14 others(253): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
| JAKMIP3_chr10_132060946_132189858 | 132159744 | G | GGGGGGCC others(225): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 158 | 0.0063 | 232 | c.222 others(251): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| JAM3_chr11_134064072_134157001 | 134092521 | T | TTTATTCA others(225): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0014 a0001c0001t0029g0205 |
3 | 390 | 0.0077 | 232 | c.76+ others(249): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| KATNIP_chr16_27545144_27785344 | 27713826 | A | ATGTGTGT others(225): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03453.hp1 |
a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0112 a0007c0010t0002g0113 a0007c0010t0002g0114 |
3 | 152 | 0.0197 | 232 | c.160 others(251): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178758788 | T | TCTCCAAG others(225): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 232 | 0.0043 | 232 | c.-67 others(251): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
| KHDRBS3_chr8_135452456_135652610 | 135535225 | A | AATAAACT others(225): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 342 | 0.0029 | 232 | c.208 others(249): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45228930 | C | CCACACCA others(225): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0373 | 1 | 398 | 0.0025 | 232 | c.64+ others(249): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
| LINGO2_chr9_27932617_29218601 | 28189533 | G | GAGGAAGG others(225): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 62 | 0.0161 | 232 | c.-36 others(253): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
| LKAAEAR1_chr20_64078376_64089398 | 64088656 | A | AGGGCAGG others(225): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | 232 | c.-44 others(243): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4259 | chr20 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857915 | C | CAGTGGTG others(225): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0015 | 1 | 294 | 0.0034 | 232 | c.153 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 858224 | A | ACGGGATG others(225): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 294 | 0.0034 | 232 | c.153 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 953288 | C | CACCCACT others(225): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19010.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0069 a0001c0008t0001g0090 |
2 | 294 | 0.0068 | 232 | c.503 others(249): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 953545 | A | ACACAGAC others(225): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0012 | a0012c0031 | a0012c0031t0001 | a0012c0031t0001g0012 | 1 | 294 | 0.0034 | 232 | c.503 others(247): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 953651 | A | ACACCCAC others(225): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0007 | a0007c0028 | a0007c0028t0004 | a0007c0028t0004g0017 | 1 | 294 | 0.0034 | 232 | c.503 others(247): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 953985 | A | ACACCCAC others(225): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0054 | 1 | 294 | 0.0034 | 232 | c.503 others(247): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCG others(225): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01943.hp2 HG01952.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0001a0001c0002t0001a0001c0020t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0035 others(3): Show |
14 | 414 | 0.0338 | 232 | c.171 others(249): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCG others(225): Show |
intron_variant | MODIFIER | HG01106.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 414 | 0.0048 | 232 | c.171 others(249): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCGG others(225): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 a0001c0001t0001g0255 |
2 | 414 | 0.0048 | 232 | c.171 others(249): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCGG others(225): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19030.hp1 NA19057.hp1 |
a0001a0008 | a0001c0001a0008c0046 | a0001c0001t0001a0001c0001t0003a0008c0046t0001 | a0001c0001t0001g0245 a0001c0001t0003g0093 a0008c0046t0001g0321 |
3 | 414 | 0.0073 | 232 | c.171 others(249): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCGGT others(225): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 414 | 0.0024 | 232 | c.171 others(249): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCGGT others(225): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0057 a0001c0003t0001g0059 |
2 | 414 | 0.0048 | 232 | c.171 others(249): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCGGTG others(225): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 414 | 0.0024 | 232 | c.171 others(249): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
| LRP8_chr1_53237364_53333070 | 53283550 | T | TACTTACT others(225): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0036 | 1 | 296 | 0.0034 | 232 | c.368 others(249): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACCCTT others(225): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 290 | 0.0035 | 232 | c.129 others(251): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LY75_chr2_159798355_159909756 | 159873772 | C | CATATAGT others(225): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02280.hp2 HG02486.hp1 others(1): Show |
a0004a0009a0028 | a0004c0010a0009c0012a0028c0032 | a0004c0010t0011a0009c0012t0001a0028c0032t0008 | a0004c0010t0011g0222 a0009c0012t0001g0219 a0009c0012t0001g0244 others(1): Show |
4 | 330 | 0.0121 | 232 | c.197 others(251): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
| MARCHF1_chr4_163519718_164389019 | 163894652 | C | CATATATA others(225): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0068 | 1 | 102 | 0.0098 | 232 | c.-38 others(251): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
| MBOAT7_chr19_54168415_54194580 | 54181997 | G | GGGAAGGA others(225): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 373 | 0.0027 | 232 | c.494 others(247): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
| MCOLN2_chr1_84920583_85002113 | 84987552 | A | ATACATAT others(225): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0281 a0001c0001t0012g0256 |
2 | 350 | 0.0057 | 232 | c.77+ others(247): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
| METRNL_chr17_83074609_83100122 | 83090486 | C | CCCCCGCC others(225): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 399 | 0.0025 | 232 | c.557 others(249): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(225): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0128 | 1 | 181 | 0.0055 | 232 | c.107 others(251): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237543370 | G | GAGGGGAC others(225): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0116 | 1 | 286 | 0.0035 | 232 | c.153 others(249): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
| MPG_chr16_73225_90846 | 82236 | C | CCCTCCTG others(225): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 442 | 0.0023 | 232 | c.301 others(247): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(225): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0074 | 1 | 410 | 0.0024 | 232 | c.484 others(247): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(225): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0093 | 1 | 410 | 0.0024 | 232 | c.484 others(247): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(225): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0034 | a0002c0003t0034g0076 | 1 | 410 | 0.0024 | 232 | c.484 others(247): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
| MSLN_chr16_755734_773862 | 767641 | A | AGGGGGCC others(225): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 388 | 0.0026 | 232 | c.159 others(249): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2127564 | C | CCAGGCAG others(225): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03041.hp2 HG06807.hp2 others(1): Show |
a0002a0037 | a0002c0086a0002c0097a0002c0121others(1): Show | a0002c0086t0006a0002c0097t0006a0002c0121t0006others(1): Show | a0002c0086t0006g0190 a0002c0097t0006g0050 a0002c0121t0006g0075 others(1): Show |
4 | 403 | 0.0099 | 232 | c.369 others(251): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158667579 | C | CCCTTACC others(225): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 378 | 0.0027 | 232 | c.148 others(251): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCG others(225): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG01943.hp2 HG01952.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(9): Show |
13 | 384 | 0.0339 | 232 | c.-41 others(243): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCG others(225): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0143 |
2 | 384 | 0.0052 | 232 | c.-41 others(243): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCGG others(225): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 NA18969.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0002g0092 |
3 | 384 | 0.0078 | 232 | c.-41 others(243): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCGG others(225): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 384 | 0.0026 | 232 | c.-41 others(243): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCGGT others(225): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 2 | 384 | 0.0052 | 232 | c.-41 others(243): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCGGTG others(225): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 384 | 0.0026 | 232 | c.-41 others(243): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
| NCS1_chr9_130167404_130242303 | 130221881 | A | AATATAAA others(225): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02735.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0058 a0001c0001t0002g0214 a0001c0001t0015g0203 |
3 | 348 | 0.0086 | 232 | c.308 others(247): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NDUFV3_chr21_42888309_42918299 | 42894351 | A | AAATATAT others(225): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0193 | 1 | 348 | 0.0029 | 232 | c.48+ others(245): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |