| 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 | 360163 | TCTCAGCA others(249): Show |
T | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0030 | a0001c0030t0045 | a0001c0030t0045g0117 | 1 | 370 | 0.0027 | -256 | c.*17 others(11): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1583 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 360937 | GAGGAGCG others(249): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0216 | 1 | 370 | 0.0027 | -256 | c.*10 others(11): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 809 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 361193 | CAGGAGCG others(249): Show |
C | downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0103 | 1 | 370 | 0.0027 | -256 | c.*75 others(10): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 553 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 361528 | GTTTGACT others(249): Show |
G | splice_region_variant | LOW | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0002 | a0001c0001t0003a0001c0019t0003a0002c0002t0003 | a0001c0001t0003g0242a0001c0001t0003g0243a0001c0001t0003g0270others(5): Show | 8 | 370 | 0.0216 | -256 | c.*41 others(9): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 8/8 | chr19 | TogoVar | ||||||
| TMEM179B_chr11_62782402_62795400 | 62784026 | TCGCCCGG others(249): Show |
T | upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 398 | 0.0025 | -256 | c.-34 others(11): Show |
TMEM179B | ENSG00000185475.11 | transcript | ENST00000333449.9 | protein_coding | 3375 | chr11 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113790571 | CATCCTAG others(249): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0170 | a0001c0001t0170g0168 | 1 | 260 | 0.0039 | -256 | c.253 others(17): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TRIML1_chr4_188134441_188152743 | 188152350 | GAGAGGGG others(249): Show |
G | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 228 | 0.0044 | -256 | c.*49 others(11): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4608 | chr4 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133292044 | TCCGTGTC others(249): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG03942.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0129a0002c0003t0002g0087 | 2 | 284 | 0.0070 | -256 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| UVSSA_chr4_1342208_1393049 | 1364097 | CCGGGCCC others(249): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02615.hp1 HG02896.hp2 others(5): Show |
a0001a0007 | a0001c0003a0007c0011 | a0001c0003t0010a0001c0003t0038a0001c0003t0040others(2): Show | a0001c0003t0010g0342a0001c0003t0010g0343a0001c0003t0038g0344others(4): Show | 8 | 400 | 0.0200 | -256 | c.117 others(19): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| XG_chrX_2747040_2821500 | 2773518 | AGAAGGAA others(249): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA19085.hp2 NA20300.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0001t0025others(1): Show | a0001c0001t0001g0093a0001c0001t0017g0269a0001c0001t0025g0317others(1): Show | 4 | 322 | 0.0124 | -256 | c.104 others(16): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| YTHDC2_chr5_113508694_113600284 | 113586880 | TATATATA others(249): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02083.hp2 HG02129.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0110a0001c0001t0001g0141others(2): Show | 5 | 316 | 0.0158 | -256 | c.382 others(19): Show |
YTHDC2 | ENSG00000047188.16 | transcript | ENST00000161863.9 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ALDH16A1_chr19_49448225_49476050 | 49462982 | TGGGGCCT others(248): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG04204.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0187a0002c0002t0002g0186 | 2 | 342 | 0.0059 | -255 | c.109 others(17): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ALDH16A1_chr19_49448225_49476050 | 49463392 | TTCCTGGG others(248): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 342 | 0.0029 | -255 | c.109 others(16): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| APOB_chr2_20996429_21049073 | 21000949 | ATGTAATT others(248): Show |
A | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0045 | a0045c0067 | a0045c0067t0002 | a0045c0067t0002g0125 | 1 | 350 | 0.0029 | -255 | c.*52 others(9): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 479 | chr2 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624872 | GGTTCACG others(248): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 246 | 0.0041 | -255 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144625680 | GGCGGCCC others(248): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0223a0001c0001t0001g0224a0001c0001t0001g0225others(5): Show | 8 | 246 | 0.0325 | -255 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144626090 | CGGCCCCG others(248): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0149 | 2 | 246 | 0.0081 | -255 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144626110 | TCACTGCA others(248): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117a0001c0002t0001g0218 | 2 | 246 | 0.0081 | -255 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176218253 | TATATATA others(248): Show |
T | intron_variant | MODIFIER | HG04184.hp1 NA18945.hp1 NA19058.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0129a0001c0004t0001g0117a0001c0004t0001g0118others(2): Show | 5 | 410 | 0.0122 | -255 | c.671 others(17): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112787780 | GTGTCCTG others(248): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02523.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(2): Show | a0001c0001t0002g0206a0001c0001t0010g0122a0001c0001t0019g0018others(2): Show | 5 | 254 | 0.0197 | -255 | c.162 others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 33908246 | CCAGGATT others(248): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(135): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(135): Show | 138 | 266 | 0.5188 | -255 | c.446 others(19): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| C21orf91_chr21_17783974_17824356 | 17815130 | TGCACACA others(248): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0053 | 2 | 414 | 0.0048 | -255 | c.127 others(17): Show |
C21orf91 | ENSG00000154642.11 | transcript | ENST00000284881.9 | protein_coding | 2/4 | chr21 | TogoVar | ||||||
| CCDC33_chr15_74231326_74341141 | 74263907 | ATGCATGC others(248): Show |
A | intron_variant | MODIFIER | HG00609.hp1 NA18983.hp1 NA19054.hp2 |
a0002a0004 | a0002c0006a0004c0028 | a0002c0006t0001a0004c0028t0002 | a0002c0006t0001g0192a0002c0006t0001g0233a0004c0028t0002g0037 | 3 | 288 | 0.0104 | -255 | c.319 others(17): Show |
CCDC33 | ENSG00000140481.15 | transcript | ENST00000398814.8 | protein_coding | 3/18 | chr15 | TogoVar | ||||||
| CDC42BPB_chr14_102927380_103062549 | 102985121 | GGTTATAC others(248): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0250 | 1 | 320 | 0.0031 | -255 | c.690 others(17): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | ||||||
| CFD_chr19_854664_868641 | 866658 | TGCACCCC others(248): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 287 | 0.0035 | -255 | c.*34 others(11): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3018 | chr19 | TogoVar | ||||||
| CLDN4_chr7_73825996_73837690 | 73836403 | TGGGGGGG others(248): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 372 | 0.0027 | -255 | c.*45 others(11): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3714 | chr7 | TogoVar | ||||||
| CLDN4_chr7_73825996_73837690 | 73836446 | GGTGAGGG others(248): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02809.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 15 | 372 | 0.0403 | -255 | c.*46 others(11): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3757 | chr7 | TogoVar | ||||||
| COQ8A_chr1_226935294_226992544 | 226978473 | AATACCTG others(248): Show |
A | intron_variant | MODIFIER | NA18977.hp2 NA18982.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0044a0001c0002t0003g0095 | 2 | 412 | 0.0049 | -255 | c.730 others(16): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DACH1_chr13_71432966_71872204 | 71734183 | TCCCATAT others(248): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01433.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0014a0001c0001t0001g0028a0001c0001t0001g0045others(25): Show | 28 | 102 | 0.2745 | -255 | c.849 others(19): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14212132 | TTTTACTC others(248): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0021 | 1 | 148 | 0.0068 | -255 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| EIF3B_chr7_2349827_2385745 | 2377990 | GGCGCGAG others(248): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0195 | 1 | 384 | 0.0026 | -255 | c.215 others(17): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 133857096 | TTATATAT others(248): Show |
T | intron_variant | MODIFIER | HG02622.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0055a0001c0002t0002g0071 | 2 | 102 | 0.0196 | -255 | c.173 others(21): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| FOXN3_chr14_89151177_89422233 | 89362302 | ACCACCAC others(248): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0076 | 1 | 230 | 0.0044 | -255 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805768 | GACCTCCG others(248): Show |
G | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 314 | 0.0032 | -255 | c.*16 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1482 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805785 | CTCCCCCC others(248): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00741.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0070a0001c0001t0001g0211a0001c0001t0002g0030others(1): Show | 4 | 314 | 0.0127 | -255 | c.*16 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1499 | chr2 | TogoVar | ||||||
| GZMA_chr5_55097646_55115252 | 55106075 | AAAATAAA others(248): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 390 | 0.0026 | -255 | c.215 others(15): Show |
GZMA | ENSG00000145649.8 | transcript | ENST00000274306.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| HECW1_chr7_43107647_43571001 | 43374532 | TGGGAGGC others(248): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00673.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(14): Show | a0001c0001t0002g0043a0001c0001t0004g0023a0001c0002t0001g0104others(17): Show | 20 | 182 | 0.1099 | -255 | c.555 others(19): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | chr7 | TogoVar | ||||||
| HSPA4_chr5_133047013_133111449 | 133108894 | GGGGGGGT others(248): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01256.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0030a0001c0002t0075 | a0001c0002t0011g0057a0001c0002t0030g0001a0001c0002t0075g0027 | 4 | 364 | 0.0110 | -255 | c.*44 others(11): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 2446 | chr5 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(248): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 350 | 0.0029 | -255 | c.*29 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| LY6E_chr8_143013529_143027409 | 143015146 | AGGAAGGA others(248): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 377 | 0.0027 | -255 | c.-34 others(11): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3382 | chr8 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19452153 | GAGAAGAG others(248): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0018 | a0006c0018t0007 | a0006c0018t0007g0132 | 1 | 163 | 0.0061 | -255 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | ||||||
| MBTPS1_chr16_84048763_84121942 | 84050651 | CCCGCATG others(248): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp2 NA18961.hp2 NA18999.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169a0001c0002t0002g0170a0001c0002t0002g0171 | 3 | 424 | 0.0071 | -255 | c.*35 others(11): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 3111 | chr16 | TogoVar | ||||||
| MBTPS1_chr16_84048763_84121942 | 84051855 | CGTAAGGA others(248): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0370a0001c0001t0003g0371a0001c0001t0003g0372 | 3 | 424 | 0.0071 | -255 | c.*23 others(11): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 1907 | chr16 | TogoVar | ||||||
| METTL27_chr7_73829590_73847516 | 73836403 | TGGGGGGG others(248): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 372 | 0.0027 | -255 | c.479 others(17): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
| METTL27_chr7_73829590_73847516 | 73836446 | GGTGAGGG others(248): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02809.hp1 others(12): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012a0003c0003t0001g0020a0003c0003t0001g0027others(6): Show | 15 | 372 | 0.0403 | -255 | c.479 others(17): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195777390 | CCATACCT others(248): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 |
a0034a0035 | a0034c0152a0035c0151 | a0034c0152t0014a0035c0151t0007 | a0034c0152t0014g0185a0035c0151t0007g0186 | 2 | 249 | 0.0080 | -255 | c.129 others(19): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57687774 | TATAATAT others(248): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 NA18747.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0197a0001c0001t0001g0204a0002c0002t0002g0012others(1): Show | 4 | 352 | 0.0114 | -255 | c.*32 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2411 | chr15 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57687800 | TATATAAT others(248): Show |
T | downstream_gene_variant | MODIFIER | HG01257.hp2 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0203 | 2 | 352 | 0.0057 | -255 | c.*33 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2437 | chr15 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57687974 | TAATGTGT others(248): Show |
T | downstream_gene_variant | MODIFIER | HG01175.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0282 | 2 | 352 | 0.0057 | -255 | c.*34 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2611 | chr15 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805785 | CTCCCCCC others(248): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG02717.hp1 HG03130.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0018 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0003g0185a0001c0004t0001g0054others(1): Show | 4 | 319 | 0.0125 | -255 | c.-34 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3407 | chr2 | TogoVar |