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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3185): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00733.hp1 HG00738.hp2 others(5): Show |
a0003a0082 | a0003c0008a0003c0030a0003c0031others(1): Show | a0003c0008t0003a0003c0030t0003a0003c0031t0003others(2): Show | a0003c0008t0003g0027a0003c0008t0003g0360a0003c0030t0003g0010others(3): Show | 8 | 424 | 0.0189 | 3192 | c.688 others(3201): Show |
p.Gly others(3207): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3185): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp2 NA18522.hp2 |
a0122a0133 | a0122c0334a0133c0310 | a0122c0334t0003a0133c0310t0003 | a0122c0334t0003g0254a0133c0310t0003g0075 | 2 | 424 | 0.0047 | 3192 | c.688 others(3201): Show |
p.Gly others(3207): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(3185): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 290 | 0.0035 | 3192 | c.129 others(3209): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MPG_chr16_73225_90846 | 82032 | G | GCCCCTTC others(3185): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 442 | 0.0023 | 3192 | c.301 others(3207): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 82032 | G | GCCCCTTC others(3185): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0275 | 1 | 350 | 0.0029 | 3192 | c.*46 others(3203): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3353 | chr16 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133170667 | T | TAAAGAAA others(3185): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0055 | 1 | 68 | 0.0147 | 3192 | c.62- others(3211): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3185): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0194 | 1 | 350 | 0.0029 | 3192 | c.192 others(3207): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ZNF461_chr19_36631618_36671837 | 36661642 | T | TAAGATGA others(3185): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 354 | 0.0028 | 3192 | c.9+3 others(3205): Show |
ZNF461 | ENSG00000197808.14 | transcript | ENST00000588268.6 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3186): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18950.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014 | a0001c0002t0002g0084a0001c0002t0014g0119 | 2 | 276 | 0.0073 | 3193 | c.58- others(3210): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3187): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0039 | 1 | 264 | 0.0038 | 3194 | c.400 others(3213): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143864004 | C | CCCTGCTC others(3187): Show |
frameshift_variant others(1): Show |
HIGH | NA18957.hp2 | a0171 | a0171c0253 | a0171c0253t0001 | a0171c0253t0001g0085 | 1 | 424 | 0.0024 | 3194 | c.924 others(3203): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9324/16005 | 9249/15267 | 3083/5088 | chr8 | TogoVar | ||
MARCHF6_chr5_10348695_10445388 | 10356403 | T | TTTTATTT others(3187): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0168 | 1 | 284 | 0.0035 | 3194 | c.19+ others(3209): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3187): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 99 | 0.0101 | 3194 | c.*41 others(3205): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3187): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 2 | 99 | 0.0202 | 3194 | c.*41 others(3205): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3187): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02135.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000a0001c0001t0006g0000 | 10 | 99 | 0.1010 | 3194 | c.*41 others(3205): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113331865 | A | ACCATTTA others(3188): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0017 | a0017c0039 | a0017c0039t0066 | a0017c0039t0066g0122 | 1 | 348 | 0.0029 | 3195 | c.361 others(3214): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 25/34 | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3188): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0059 | 1 | 298 | 0.0034 | 3195 | c.126 others(3212): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(3188): Show |
conservative_inframe_insertion | MODERATE | HG03486.hp1 | a0056 | a0056c0158 | a0056c0158t0001 | a0056c0158t0001g0048 | 1 | 424 | 0.0024 | 3195 | c.139 others(3206): Show |
p.Ala others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(3188): Show |
conservative_inframe_insertion | MODERATE | HG02818.hp2 | a0058 | a0058c0155 | a0058c0155t0001 | a0058c0155t0001g0047 | 1 | 424 | 0.0024 | 3195 | c.139 others(3206): Show |
p.Ala others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860041 | C | CGGTGGCC others(3188): Show |
conservative_inframe_insertion | MODERATE | NA20300.hp2 | a0117 | a0117c0051 | a0117c0051t0004 | a0117c0051t0004g0205 | 1 | 424 | 0.0024 | 3195 | c.132 others(3206): Show |
p.Thr others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13287/16005 | 13212/15267 | 4404/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143861076 | A | AGAGGAGC others(3188): Show |
conservative_inframe_insertion | MODERATE | NA19043.hp1 | a0104 | a0104c0167 | a0104c0167t0001 | a0104c0167t0001g0208 | 1 | 424 | 0.0024 | 3195 | c.121 others(3206): Show |
p.Leu others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12252/16005 | 12177/15267 | 4059/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143861904 | C | CGGACACC others(3188): Show |
conservative_inframe_insertion | MODERATE | NA19090.hp1 | a0192 | a0192c0235 | a0192c0235t0001 | a0192c0235t0001g0326 | 1 | 424 | 0.0024 | 3195 | c.113 others(3206): Show |
p.Ser others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11424/16005 | 11349/15267 | 3783/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865946 | G | GCGCAGGG others(3188): Show |
disruptive_inframe_insertion | MODERATE | HG03098.hp2 | a0060 | a0060c0154 | a0060c0154t0001 | a0060c0154t0001g0046 | 1 | 424 | 0.0024 | 3195 | c.730 others(3204): Show |
p.Arg others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7382/16005 | 7307/15267 | 2436/5088 | chr8 | TogoVar | ||
ANKMY1_chr2_240474422_240562988 | 240487596 | T | TAAGAGTT others(3189): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 320 | 0.0031 | 3196 | c.280 others(3215): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 15/17 | chr2 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758292 | C | CCACCTGC others(3189): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0223 | 1 | 300 | 0.0033 | 3196 | c.655 others(3215): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(3189): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0115 | 1 | 214 | 0.0047 | 3196 | c.565 others(3213): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3189): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 316 | 0.0032 | 3196 | c.44- others(3209): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(3189): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0255 | 1 | 290 | 0.0035 | 3196 | c.129 others(3215): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
REXO5_chr16_20801527_20854665 | 20831799 | A | AAGTAAAT others(3189): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 372 | 0.0027 | 3196 | c.115 others(3213): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF461_chr19_36631618_36671837 | 36661642 | T | TAAGATGA others(3189): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 354 | 0.0028 | 3196 | c.9+3 others(3209): Show |
ZNF461 | ENSG00000197808.14 | transcript | ENST00000588268.6 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3190): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19240.hp2 |
a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0132a0002c0008t0004g0133 | 2 | 280 | 0.0071 | 3197 | c.115 others(3216): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3190): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 279 | 0.0036 | 3197 | c.*27 others(3208): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(3191): Show |
conservative_inframe_insertion | MODERATE | HG02129.hp2 NA18944.hp1 |
a0155a0156 | a0155c0292a0156c0290 | a0155c0292t0002a0156c0290t0002 | a0155c0292t0002g0186a0156c0290t0002g0185 | 2 | 424 | 0.0047 | 3198 | c.139 others(3209): Show |
p.Ala others(3213): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(3191): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0108 | 1 | 416 | 0.0024 | 3198 | c.522 others(3213): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NBPF9_chr1_149047186_149108551 | 149060924 | C | CACACACA others(3191): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0076 | a0002c0002t0076g0238 | 1 | 344 | 0.0029 | 3198 | c.230 others(3215): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 23/29 | chr1 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3192): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 184 | 0.0054 | 3199 | c.280 others(3220): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3192): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0134 | 1 | 280 | 0.0036 | 3199 | c.115 others(3218): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322793 | A | ACGGAATG others(3192): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 323 | 0.0031 | 3199 | c.-22 others(3210): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2176 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3192): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 323 | 0.0031 | 3199 | c.-21 others(3210): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3192): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 318 | 0.0031 | 3199 | c.-91 others(3220): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3192): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0081 | 1 | 272 | 0.0037 | 3199 | c.389 others(3218): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3193): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 316 | 0.0032 | 3200 | c.44- others(3213): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240184948 | T | TCCCCTTC others(3193): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0023 | a0023c0013 | a0023c0013t0001 | a0023c0013t0001g0010 | 1 | 174 | 0.0058 | 3200 | c.193 others(3219): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PIP5K1C_chr19_3625183_3705468 | 3649113 | A | ATGCCCAC others(3193): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 332 | 0.0030 | 3200 | c.112 others(3217): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(3193): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 NA19088.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0002a0001c0020t0002 | a0001c0001t0002g0264a0001c0001t0002g0280a0001c0020t0002g0245 | 3 | 332 | 0.0090 | 3200 | c.112 others(3217): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
MELK_chr9_36567895_36682682 | 36642589 | T | TGGCTAAT others(3194): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 242 | 0.0041 | 3201 | c.835 others(3216): Show |
MELK | ENSG00000165304.8 | transcript | ENST00000298048.7 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3194): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 362 | 0.0028 | 3201 | c.-18 others(3222): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3194): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0075 | 1 | 126 | 0.0079 | 3201 | c.-28 others(3220): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(3195): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0209 | 1 | 342 | 0.0029 | 3202 | c.578 others(3215): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CGGAGGGG others(3195): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0249 | 1 | 308 | 0.0033 | 3202 | c.157 others(3219): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar |