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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC183_chr9_136791338_136812741 | 136803232 | A | AGCCCTCT others(463): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 398 | 0.0025 | 470 | c.666 others(485): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61944146 | A | ATGAGGAG others(463): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0022 | 1 | 106 | 0.0094 | 470 | c.*72 others(481): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3530 | chr20 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 628753 | A | AGTCCCTG others(463): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 91 | 0.0110 | 470 | c.512 others(487): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109108012 | T | TGTGTTGG others(463): Show |
frameshift_variant others(1): Show |
HIGH | HG01934.hp1 HG03098.hp2 NA20752.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0019 | 3 | 404 | 0.0074 | 470 | c.106 others(477): Show |
p.His others(4): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 2/5 | 174/655 | 106/510 | 36/169 | chr1 | TogoVar | |||
CIP2A_chr3_108544864_108594438 | 108575563 | T | TATATATA others(463): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 372 | 0.0027 | 470 | c.894 others(485): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(463): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03688.hp2 HG04184.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0002a0001c0002t0008a0001c0012t0001 | a0001c0002t0002g0051 a0001c0002t0008g0057 a0001c0012t0001g0056 |
3 | 182 | 0.0165 | 470 | c.267 others(487): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(463): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0146 | 1 | 182 | 0.0055 | 470 | c.267 others(487): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ACACCCCT others(463): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 276 | 0.0036 | 470 | c.*52 others(481): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1284660 | A | ATTTTTTT others(463): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 159 | 0.0063 | 470 | c.77- others(485): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(463): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 396 | 0.0025 | 470 | c.513 others(487): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(463): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0096 | 1 | 230 | 0.0044 | 470 | c.724 others(489): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911671 | T | TGGGGGAG others(463): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0029 | a0029c0070 | a0029c0070t0001 | a0029c0070t0001g0152 | 1 | 170 | 0.0059 | 470 | c.101 others(491): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675822 | A | ATATGTGT others(463): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01358.hp2 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022 | a0001c0001t0010g0381 a0001c0001t0010g0382 a0001c0001t0010g0383 others(2): Show |
5 | 398 | 0.0126 | 470 | c.477 others(489): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137810248 | C | CGTGGGTG others(463): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0128 | 1 | 170 | 0.0059 | 470 | c.271 others(489): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ENTR1_chr9_136396922_136415614 | 136403327 | G | GAGAAAGG others(463): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 412 | 0.0024 | 470 | c.120 others(487): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136403390 | C | CCCAGGGA others(463): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 412 | 0.0024 | 470 | c.120 others(487): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136403393 | A | AGGGAGCA others(463): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 412 | 0.0024 | 470 | c.120 others(487): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329311 | T | TACACAGG others(463): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0014 | 1 | 82 | 0.0122 | 470 | c.199 others(489): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(463): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18949.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0097 others(1): Show |
4 | 346 | 0.0116 | 470 | c.-76 others(487): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(463): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 346 | 0.0029 | 470 | c.-76 others(487): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(463): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0315 others(1): Show |
5 | 346 | 0.0145 | 470 | c.-76 others(487): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27999036 | C | CATATAAA others(463): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0248 | 1 | 292 | 0.0034 | 470 | c.*50 others(481): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4237 | chr13 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132776582 | C | CTCCTTCC others(463): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 308 | 0.0033 | 470 | c.397 others(485): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92538792 | T | TCATTCTT others(463): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 42 | 0.0238 | 470 | c.156 others(493): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998577 | C | CATATATA others(463): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0091 | 1 | 418 | 0.0024 | 470 | c.167 others(487): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRHL1_chr2_9946693_10007277 | 9998889 | C | CACATATA others(463): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0314 | 1 | 418 | 0.0024 | 470 | c.167 others(485): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(463): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 323 | 0.0031 | 470 | c.-36 others(481): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132630701 | T | TCTGCAAG others(463): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0002 | a0001c0001t0002g0082 a0001c0003t0001g0080 a0001c0003t0002g0081 |
3 | 204 | 0.0147 | 470 | c.118 others(489): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132630701 | T | TCTGCAAG others(463): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0185 a0001c0005t0001g0186 |
2 | 204 | 0.0098 | 470 | c.118 others(489): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(463): Show |
intron_variant | MODIFIER | HG02257.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0197 a0001c0003t0003g0204 |
2 | 204 | 0.0098 | 470 | c.978 others(487): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(463): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 158 | 0.0063 | 470 | c.*11 others(491): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(463): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0035 | a0004c0035t0005 | a0004c0035t0005g0020 | 1 | 158 | 0.0063 | 470 | c.*11 others(491): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KATNA1_chr6_149589873_149653714 | 149634275 | A | AAAAATAA others(463): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 296 | 0.0034 | 470 | c.163 others(487): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(463): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0090a0001c0001t0102a0001c0001t0103others(1): Show | a0001c0001t0090g0157 a0001c0001t0102g0107 a0001c0001t0103g0049 others(1): Show |
4 | 198 | 0.0202 | 470 | c.946 others(487): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGA others(463): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0033 a0001c0001t0007g0117 |
2 | 375 | 0.0053 | 470 | c.317 others(487): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174505 | T | TATATATA others(463): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0271 | 1 | 284 | 0.0035 | 470 | c.126 others(487): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(463): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0098 a0001c0001t0001g0141 a0001c0001t0001g0204 others(3): Show |
6 | 260 | 0.0231 | 470 | c.125 others(487): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(463): Show |
intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 |
2 | 260 | 0.0077 | 470 | c.125 others(487): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857705 | G | GAGTGGTG others(463): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03831.hp2 NA18612.hp2 others(3): Show |
a0001a0003 | a0001c0003a0001c0008a0001c0046others(1): Show | a0001c0003t0001a0001c0008t0001a0001c0046t0001others(1): Show | a0001c0003t0001g0133 a0001c0003t0001g0179 a0001c0008t0001g0069 others(3): Show |
6 | 294 | 0.0204 | 470 | c.153 others(489): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857705 | G | GAGTGGTG others(463): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03688.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0225 a0001c0004t0001g0075 |
2 | 294 | 0.0068 | 470 | c.153 others(489): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857705 | G | GAGTGGTG others(463): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 294 | 0.0034 | 470 | c.153 others(489): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857751 | G | GAGTGGTG others(463): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0244 | 1 | 294 | 0.0034 | 470 | c.153 others(489): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(463): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0018 | 1 | 296 | 0.0034 | 470 | c.368 others(487): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24883330 | A | AATCTTCC others(463): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02129.hp1 HG02145.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0003g0081 others(12): Show |
15 | 116 | 0.1293 | 470 | c.397 others(489): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MCM3AP_chr21_46230133_46290611 | 46289983 | G | GTGTGTGT others(463): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 360 | 0.0028 | 470 | c.-46 others(481): Show |
MCM3AP | ENSG00000160294.11 | transcript | ENST00000291688.6 | protein_coding | 4373 | chr21 | TogoVar | |||||||
MCM3AP_chr21_46230133_46290611 | 46289983 | G | GTGTGTGT others(463): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0002a0001c0004others(26): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(219): Show |
241 | 360 | 0.6694 | 470 | c.-46 others(481): Show |
MCM3AP | ENSG00000160294.11 | transcript | ENST00000291688.6 | protein_coding | 4373 | chr21 | TogoVar | |||||||
MCM3AP_chr21_46230133_46290611 | 46289983 | G | GTGTGTGT others(463): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0027 | 1 | 360 | 0.0028 | 470 | c.-46 others(481): Show |
MCM3AP | ENSG00000160294.11 | transcript | ENST00000291688.6 | protein_coding | 4373 | chr21 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AGGGAGGA others(463): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02040.hp2 HG02083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0067 others(1): Show |
4 | 250 | 0.0160 | 470 | c.225 others(487): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843574 | G | GAGGAAGG others(463): Show |
intron_variant | MODIFIER | NA20752.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 230 | 0.0087 | 470 | c.163 others(487): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(463): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0181 | 1 | 384 | 0.0026 | 470 | c.160 others(487): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar |