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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THEG_chr19_356747_381026 | 377528 | G | GCCCCACC others(599): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0252 | 1 | 370 | 0.0027 | 606 | c.-15 others(617): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1503 | chr19 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(599): Show |
intron_variant | MODIFIER | HG03654.hp2 HG03831.hp1 NA19066.hp2 |
a0001a0008 | a0001c0001a0001c0002a0008c0015 | a0001c0001t0002a0001c0002t0004a0008c0015t0032 | a0001c0001t0002g0153a0001c0002t0004g0087a0008c0015t0032g0018 | 3 | 256 | 0.0117 | 606 | c.924 others(623): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747979 | G | GCTGGGGT others(599): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0246 | 1 | 314 | 0.0032 | 606 | c.189 others(621): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM178B_chr7_141069064_141485380 | 141337158 | T | TCACCACC others(599): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 80 | 0.0125 | 606 | c.497 others(627): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMPRSS9_chr19_2355265_2431261 | 2377575 | C | CCTCCCCA others(599): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0088 | 1 | 114 | 0.0088 | 606 | c.-25 others(625): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870157 | C | CCCACACA others(599): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 338 | 0.0030 | 606 | c.*35 others(625): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870297 | C | CAAACCAC others(599): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18982.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0270a0001c0001t0003g0039a0001c0001t0003g0083 | 3 | 338 | 0.0089 | 606 | c.*35 others(625): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870297 | C | CAAACCAC others(599): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 338 | 0.0030 | 606 | c.*35 others(625): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870297 | C | CAAACCAC others(599): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 338 | 0.0030 | 606 | c.*35 others(625): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(599): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0228 | 1 | 250 | 0.0040 | 606 | c.82+ others(621): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(599): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0225 | 1 | 250 | 0.0040 | 606 | c.82+ others(621): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(599): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0052 | 1 | 326 | 0.0031 | 606 | c.483 others(621): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
WRAP53_chr17_7683477_7708502 | 7699448 | A | ATATATAT others(599): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0110 | 1 | 384 | 0.0026 | 606 | c.643 others(623): Show |
WRAP53 | ENSG00000141499.18 | transcript | ENST00000396463.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(599): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0165 | 1 | 302 | 0.0033 | 606 | c.-1- others(623): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(599): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02027.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0164a0001c0001t0001g0299a0001c0001t0002g0006others(23): Show | 26 | 302 | 0.0861 | 606 | c.-1- others(623): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(599): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0141a0001c0001t0015g0091 | 2 | 302 | 0.0066 | 606 | c.-1- others(623): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(599): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065a0001c0001t0002g0067 | 2 | 302 | 0.0066 | 606 | c.-1- others(623): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(599): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0154 | 1 | 290 | 0.0035 | 606 | c.205 others(625): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(599): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0263others(28): Show | 31 | 290 | 0.1069 | 606 | c.205 others(625): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(600): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 607 | c.-10 others(618): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318187 | A | ACCCTTGC others(600): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 268 | 0.0037 | 607 | c.-36 others(618): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3526 | chr5 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713996 | G | GCCTACAC others(600): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0079 | a0001c0001t0016g0086a0001c0001t0079g0445 | 2 | 462 | 0.0043 | 607 | c.564 others(622): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60468025 | A | AGTGATGG others(600): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 262 | 0.0038 | 607 | c.487 others(622): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279046 | G | GGGAGGGC others(600): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 410 | 0.0024 | 607 | c.465 others(622): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85818864 | C | CAAGGTTC others(600): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19043.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0037 | a0001c0001t0008g0013a0001c0001t0008g0141a0001c0001t0037g0054 | 3 | 146 | 0.0206 | 607 | c.238 others(626): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(600): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 398 | 0.0025 | 607 | c.666 others(622): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(600): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 398 | 0.0025 | 607 | c.666 others(622): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(600): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 398 | 0.0025 | 607 | c.666 others(622): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(600): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 398 | 0.0025 | 607 | c.666 others(622): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(600): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 398 | 0.0025 | 607 | c.666 others(622): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(600): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02273.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0054a0001c0002t0003g0243 | 2 | 396 | 0.0051 | 607 | c.349 others(622): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CDC42SE2_chr5_131259053_131399672 | 131278724 | C | CCCCCCTC others(600): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0018 | 1 | 256 | 0.0039 | 607 | c.-45 others(628): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(600): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 256 | 0.0039 | 607 | c.-45 others(628): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132826072 | C | CGGAGCCA others(600): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 |
a0035a0037 | a0035c0057a0037c0056 | a0035c0057t0001a0037c0056t0001 | a0035c0057t0001g0234a0037c0056t0001g0136 | 2 | 246 | 0.0081 | 607 | c.711 others(626): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(600): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 402 | 0.0025 | 607 | c.80- others(622): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1245281 | A | ATATATAA others(600): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0177 | 1 | 232 | 0.0043 | 607 | c.358 others(626): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(600): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0140 | 1 | 216 | 0.0046 | 607 | c.923 others(626): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(600): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0015 | a0015c0050 | a0015c0050t0001 | a0015c0050t0001g0215 | 1 | 320 | 0.0031 | 607 | c.*39 others(618): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237081 | C | CGAGAGAG others(600): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 338 | 0.0030 | 607 | c.*28 others(618): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2801 | chr11 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATT others(600): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 220 | 0.0046 | 607 | c.551 others(626): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTTCCCCC others(600): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 HG02683.hp1 HG03017.hp2 others(5): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0034a0001c0006t0001g0035a0001c0006t0001g0069others(3): Show | 8 | 374 | 0.0214 | 607 | c.*13 others(618): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | ||||||
FAM118B_chr11_126206782_126267968 | 126226335 | C | CAGGCCAG others(600): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 346 | 0.0029 | 607 | c.-76 others(624): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574360 | A | AGGAGGCT others(600): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0005a0001c0003t0015 | a0001c0001t0001g0142a0001c0002t0005g0383a0001c0002t0005g0384others(1): Show | 4 | 418 | 0.0096 | 607 | c.119 others(626): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATATAC others(600): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0139 | 1 | 292 | 0.0034 | 607 | c.*49 others(618): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATGTAT others(600): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00597.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(8): Show | a0001c0001t0002g0008a0001c0001t0002g0021a0001c0001t0002g0081others(17): Show | 20 | 292 | 0.0685 | 607 | c.*49 others(618): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18926017 | A | ATGGATGG others(600): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044a0001c0001t0004g0045 | 2 | 376 | 0.0053 | 607 | c.666 others(624): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322401 | T | TATATACA others(600): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0198 | 1 | 323 | 0.0031 | 607 | c.-26 others(618): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2568 | chr21 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(600): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 252 | 0.0040 | 607 | c.10- others(624): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(600): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0070 | 1 | 158 | 0.0063 | 607 | c.*11 others(628): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIF1A_chr2_240708767_240825219 | 240812924 | A | AGCCTTCA others(600): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 330 | 0.0030 | 607 | c.-61 others(624): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 1/48 | chr2 | TogoVar |