| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGAP39_chr8_144524179_144690846 | 144687241 | A | ACACTAGC others(629): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 246 | 0.0041 | 636 | c.-16 others(647): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1396 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049880 | G | GGAACACA others(629): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183a0001c0001t0002g0184 | 2 | 308 | 0.0065 | 636 | c.*48 others(647): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2223 | chr8 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160652904 | T | TGTATTGC others(629): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0005 | a0005c0012 | a0005c0012t0017 | a0005c0012t0017g0186 | 1 | 236 | 0.0042 | 636 | c.676 others(653): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(629): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 636 | c.*36 others(647): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(629): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 300 | 0.0033 | 636 | c.-70 others(645): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
| C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(629): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03195.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0016a0001c0001t0008g0041a0001c0001t0008g0042others(1): Show | 5 | 292 | 0.0171 | 636 | c.*21 others(651): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
| C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(629): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02155.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0159a0001c0001t0001g0194a0001c0001t0010g0138 | 3 | 292 | 0.0103 | 636 | c.*21 others(651): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
| C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(629): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036a0001c0001t0004g0127a0001c0001t0004g0183others(7): Show | 11 | 292 | 0.0377 | 636 | c.*21 others(651): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
| C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(629): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 292 | 0.0034 | 636 | c.*21 others(651): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2106118 | A | AGAGGGTT others(629): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0009 | a0002c0009t0012 | a0002c0009t0012g0061a0002c0009t0012g0062 | 2 | 104 | 0.0192 | 636 | c.50- others(651): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(629): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0205 | 1 | 330 | 0.0030 | 636 | c.907 others(651): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
| CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(629): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027a0001c0001t0002g0026 | 2 | 396 | 0.0051 | 636 | c.349 others(651): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(629): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 396 | 0.0025 | 636 | c.349 others(651): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(629): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 396 | 0.0025 | 636 | c.349 others(651): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(629): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0011 | a0011c0015 | a0011c0015t0051 | a0011c0015t0051g0275 | 1 | 324 | 0.0031 | 636 | c.127 others(655): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20320485 | A | ATTATATA others(629): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0014 | a0009c0014t0006 | a0009c0014t0006g0007 | 1 | 236 | 0.0042 | 636 | c.342 others(657): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20357793 | G | GTGAGGGG others(629): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0083 | 1 | 236 | 0.0042 | 636 | c.351 others(655): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20357810 | T | TACTGAGG others(629): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 236 | 0.0042 | 636 | c.351 others(655): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45501091 | T | TGTGGGGG others(629): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0069 | a0001c0069t0005 | a0001c0069t0005g0038 | 1 | 292 | 0.0034 | 636 | c.268 others(655): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(629): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0238 | 1 | 344 | 0.0029 | 636 | c.85- others(653): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(629): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0103 | 1 | 326 | 0.0031 | 636 | c.737 others(655): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
| CRTC3_chr15_90524923_90650345 | 90647412 | C | CCACAATC others(629): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0020 | 1 | 276 | 0.0036 | 636 | c.*52 others(647): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2068 | chr15 | TogoVar | ||||||
| CTU2_chr16_88701503_88720396 | 88713084 | C | CCTGAGAG others(629): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 | 1 | 418 | 0.0024 | 636 | c.737 others(651): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | chr16 | TogoVar | ||||||
| CUX2_chr12_111029165_111355554 | 111326279 | G | GGAGGGAG others(629): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 100 | 0.0100 | 636 | c.292 others(655): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DAZAP1_chr19_1402586_1440684 | 1420122 | T | TCCCGAAC others(629): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017 | a0001c0001t0011g0314a0001c0001t0017g0315 | 2 | 374 | 0.0054 | 636 | c.304 others(651): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DCLK1_chr13_35763652_36136382 | 35958126 | C | CCACTACT others(629): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0009 | a0001c0009t0011 | a0001c0009t0011g0149 | 1 | 230 | 0.0044 | 636 | c.724 others(655): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
| DCLK1_chr13_35763652_36136382 | 35958136 | A | AACCATCA others(629): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0221 | 1 | 230 | 0.0044 | 636 | c.724 others(655): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 657527 | C | CGCTAGAC others(629): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG01258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0023others(11): Show | 14 | 88 | 0.1591 | 636 | c.85+ others(653): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 978459 | C | CGTGGGGA others(629): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | 636 | c.73+ others(653): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 978524 | G | GTCGGGGA others(629): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0003t0001g0025others(2): Show | 5 | 40 | 0.1250 | 636 | c.73+ others(653): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNAH10_chr12_123757301_123940714 | 123911671 | T | TGGGGGGG others(629): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0128 | 1 | 170 | 0.0059 | 636 | c.101 others(657): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400809 | T | TCACCATC others(629): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0009 | a0009c0015 | a0009c0015t0007 | a0009c0015t0007g0062 | 1 | 256 | 0.0039 | 636 | c.323 others(655): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(629): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0026others(3): Show | a0001c0001t0005g0226a0001c0001t0005g0237a0001c0001t0006g0076others(4): Show | 7 | 248 | 0.0282 | 636 | c.62- others(653): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| FLT3_chr13_27998274_28105576 | 27999111 | A | ATGTATGT others(629): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 292 | 0.0034 | 636 | c.*49 others(647): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4162 | chr13 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635661 | A | AAGTATGG others(629): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0058 | 1 | 388 | 0.0026 | 636 | c.59- others(651): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635661 | A | AAGTATGG others(629): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01069.hp2 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0023a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0002g0047others(34): Show | 37 | 388 | 0.0954 | 636 | c.59- others(651): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635661 | A | AAGTATGG others(629): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0023 | a0001c0023t0008 | a0001c0023t0008g0377 | 1 | 388 | 0.0026 | 636 | c.59- others(651): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| GOLGA3_chr12_132763914_132833869 | 132776464 | A | ATACACAG others(629): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0018 | a0018c0029 | a0018c0029t0061 | a0018c0029t0061g0103 | 1 | 308 | 0.0033 | 636 | c.397 others(653): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 315827 | C | CACACAAA others(629): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0036 | a0002c0036t0001 | a0002c0036t0001g0071 | 1 | 155 | 0.0065 | 636 | c.488 others(651): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| HPCAL1_chr2_10297904_10432604 | 10399262 | T | TCACCACC others(629): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 314 | 0.0032 | 636 | c.-25 others(653): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(629): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 274 | 0.0037 | 636 | c.804 others(653): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
| INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(629): Show |
intron_variant | MODIFIER | HG02723.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0007 | a0001c0001t0002g0178a0001c0005t0007g0186 | 2 | 310 | 0.0065 | 636 | c.199 others(653): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(629): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0004 | 1 | 260 | 0.0039 | 636 | c.125 others(653): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364447 | A | ACCCACAC others(629): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0210 | 1 | 290 | 0.0035 | 636 | c.129 others(653): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(629): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0087 | 1 | 278 | 0.0036 | 636 | c.115 others(653): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MICALL2_chr7_1429359_1464470 | 1446228 | G | GGAGGGAG others(629): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0024 | 1 | 280 | 0.0036 | 636 | c.641 others(651): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
| MIER2_chr19_300573_349796 | 303875 | T | TCTCATCA others(629): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0107 | 2 | 384 | 0.0052 | 636 | c.*28 others(647): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 1697 | chr19 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(629): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 272 | 0.0037 | 636 | c.250 others(651): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(629): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 330 | 0.0030 | 636 | c.-5+ others(651): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MTA1_chr14_105414827_105475729 | 105442831 | A | ACTGTGTG others(629): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0208 | 1 | 304 | 0.0033 | 636 | c.97- others(651): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |