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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1070): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0126 | 1 | 258 | 0.0039 | 1077 | c.113 others(1096): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGATCAC others(1070): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 392 | 0.0026 | 1077 | c.228 others(1096): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGATCAC others(1070): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 392 | 0.0026 | 1077 | c.228 others(1096): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111341508 | A | AATCATAA others(1070): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 416 | 0.0024 | 1077 | c.240 others(1094): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870478 | A | ACACCCCA others(1070): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 338 | 0.0030 | 1077 | c.*35 others(1096): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1070): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0137 | 2 | 394 | 0.0051 | 1077 | c.129 others(1094): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VCX3A_chrX_6528618_6540118 | 6533537 | C | CCCTCCCT others(1070): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 | 1 | 74 | 0.0135 | 1077 | c.*20 others(1086): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 80 | chrX | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756457 | A | AATAGAGT others(1071): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0028 | a0001c0028t0026 | a0001c0028t0026g0106 | 1 | 344 | 0.0029 | 1078 | c.215 others(1095): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100276332 | G | GGGTGGGA others(1071): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0004 | a0004c0031 | a0004c0031t0003 | a0004c0031t0003g0008 | 1 | 228 | 0.0044 | 1078 | c.789 others(1095): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 376527 | G | GGAAACAC others(1071): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0254 | 1 | 268 | 0.0037 | 1078 | c.245 others(1091): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1071): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058a0001c0001t0003g0059 | 2 | 238 | 0.0084 | 1078 | c.787 others(1093): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(1071): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0223a0001c0001t0011g0224 | 2 | 298 | 0.0067 | 1078 | c.173 others(1095): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1071): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0062a0001c0002t0003g0124a0001c0002t0003g0166others(1): Show | 4 | 210 | 0.0191 | 1078 | c.273 others(1095): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1071): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01168.hp2 HG01261.hp1 others(5): Show |
a0001a0006 | a0001c0002a0006c0006 | a0001c0002t0001a0006c0006t0001 | a0001c0002t0001g0004a0001c0002t0001g0020a0001c0002t0001g0025others(5): Show | 8 | 326 | 0.0245 | 1078 | c.327 others(1095): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803290 | C | CCCAGGGC others(1071): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 398 | 0.0025 | 1078 | c.666 others(1093): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61716380 | G | GCTGGACC others(1071): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 106 | 0.0094 | 1078 | c.170 others(1097): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 384 | 0.0026 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(128): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0012a0001c0018others(15): Show | a0001c0001t0001a0001c0012t0001a0001c0018t0001others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(107): Show | 131 | 384 | 0.3412 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 384 | 0.0026 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01192.hp2 others(1): Show |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0019a0009c0011t0001g0171a0009c0011t0001g0226 | 4 | 384 | 0.0104 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156a0001c0001t0001g0157 | 2 | 384 | 0.0052 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(1071): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 1 | 354 | 0.0028 | 1078 | c.*69 others(1089): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1071): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02723.hp1 others(3): Show |
a0012a0029a0039 | a0012c0014a0029c0075a0039c0048 | a0012c0014t0001a0029c0075t0001a0039c0048t0001 | a0012c0014t0001g0038a0012c0014t0001g0039a0012c0014t0001g0041others(3): Show | 6 | 278 | 0.0216 | 1078 | c.328 others(1095): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1071): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0003 | a0003c0003t0036 | a0003c0003t0036g0031 | 1 | 276 | 0.0036 | 1078 | c.*52 others(1089): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878206 | T | TATATAAA others(1071): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 208 | 0.0048 | 1078 | c.192 others(1097): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15933088 | A | AGGAATGA others(1071): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0001 | a0002c0001t0186 | a0002c0001t0186g0359 | 1 | 386 | 0.0026 | 1078 | c.198 others(1095): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1071): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0230 | a0002c0230t0001 | a0002c0230t0001g0187 | 1 | 252 | 0.0040 | 1078 | c.118 others(1097): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438444 | A | AGGAGGAG others(1071): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0239 | 1 | 252 | 0.0040 | 1078 | c.118 others(1097): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619512 | T | TCCCTGCC others(1071): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 250 | 0.0040 | 1078 | c.-10 others(1097): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1071): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0390 | 1 | 418 | 0.0024 | 1078 | c.119 others(1097): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1071): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0035 | a0001c0001t0001g0235a0001c0001t0014g0388a0001c0001t0035g0389 | 3 | 418 | 0.0072 | 1078 | c.119 others(1097): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1071): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 418 | 0.0024 | 1078 | c.119 others(1097): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1071): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 | 1 | 418 | 0.0024 | 1078 | c.119 others(1097): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GOLGA6D_chr15_75277835_75300530 | 75299921 | A | ATATATAC others(1071): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0016 | a0016c0022 | a0016c0022t0014 | a0016c0022t0014g0146 | 1 | 234 | 0.0043 | 1078 | c.*54 others(1089): Show |
GOLGA6D | ENSG00000140478.17 | transcript | ENST00000434739.4 | protein_coding | 4392 | chr15 | TogoVar | ||||||
GRIN3A_chr9_101564352_101743647 | 101617080 | G | GTCCCAGC others(1071): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0288 | 1 | 324 | 0.0031 | 1078 | c.261 others(1097): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322714 | T | TATGGAAT others(1071): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0056 | 1 | 323 | 0.0031 | 1078 | c.-23 others(1089): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2255 | chr21 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1071): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0146a0001c0001t0170a0001c0001t0181others(1): Show | a0001c0001t0146g0195a0001c0001t0170g0131a0001c0001t0181g0167others(1): Show | 4 | 276 | 0.0145 | 1078 | c.*65 others(1089): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1071): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 388 | 0.0026 | 1078 | c.-81 others(1087): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | ||||||
LEO1_chr15_51933025_51976778 | 51972592 | G | GGCGGGCG others(1071): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 | 1 | 388 | 0.0026 | 1078 | c.-84 others(1087): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 815 | chr15 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579259 | C | CCACCACC others(1071): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0319 | 1 | 362 | 0.0028 | 1078 | c.391 others(1093): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(1071): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0151 | 1 | 276 | 0.0036 | 1078 | c.100 others(1097): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1071): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp1 others(26): Show |
a0003a0010a0014others(12): Show | a0003c0033a0010c0012a0010c0013others(19): Show | a0003c0033t0001a0010c0012t0001a0010c0013t0001others(19): Show | a0003c0033t0001g0112a0003c0033t0001g0113a0010c0012t0001g0029others(26): Show | 29 | 228 | 0.1272 | 1078 | c.252 others(1097): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1071): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 1078 | c.*31 others(1089): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1071): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 326 | 0.0031 | 1078 | c.162 others(1097): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1071): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 312 | 0.0032 | 1078 | c.306 others(1097): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP2R1B_chr11_111732877_111771389 | 111746202 | T | TAGAATGA others(1071): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 |
a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0053 | 2 | 358 | 0.0056 | 1078 | c.139 others(1097): Show |
PPP2R1B | ENSG00000137713.16 | transcript | ENST00000527614.6 | protein_coding | 11/14 | chr11 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 242487 | C | CTACCTTC others(1071): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 133 | 0.0075 | 1078 | c.613 others(1095): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934328 | C | CATATATA others(1071): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 324 | 0.0031 | 1078 | c.115 others(1095): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(1071): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180a0001c0001t0003g0181 | 2 | 184 | 0.0109 | 1078 | c.280 others(1097): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1071): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 258 | 0.0039 | 1078 | c.113 others(1097): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |