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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(2731): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0215 | 1 | 292 | 0.0034 | 2738 | c.571 others(2755): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(2731): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0166 | 1 | 292 | 0.0034 | 2738 | c.571 others(2755): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(2731): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0211a0003c0003t0002g0212 | 2 | 292 | 0.0069 | 2738 | c.571 others(2755): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
GAB3_chrX_154670249_154756077 | 154688748 | T | TAGGAAAG others(2731): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 257 | 0.0039 | 2738 | c.153 others(2757): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 8/9 | chrX | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2731): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0025 | 1 | 56 | 0.0179 | 2738 | c.135 others(2755): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072888 | C | CAGCCCCC others(2731): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 118 | 0.0085 | 2738 | c.224 others(2755): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2731): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174a0001c0001t0003g0317 | 2 | 362 | 0.0055 | 2738 | c.192 others(2757): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294324 | T | TCAGCCAC others(2731): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 404 | 0.0025 | 2738 | c.340 others(2755): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294324 | T | TCAGCCAC others(2731): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 404 | 0.0025 | 2738 | c.340 others(2755): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2732): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0178 | 1 | 342 | 0.0029 | 2739 | c.578 others(2752): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2732): Show |
intron_variant | MODIFIER | HG02074.hp1 HG04228.hp1 |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0002a0002c0002t0002 | a0001c0009t0002g0195a0002c0002t0002g0148 | 2 | 342 | 0.0059 | 2739 | c.578 others(2752): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2732): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 342 | 0.0029 | 2739 | c.573 others(2756): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2732): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 342 | 0.0029 | 2739 | c.573 others(2756): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2732): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 342 | 0.0029 | 2739 | c.573 others(2756): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2732): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 316 | 0.0032 | 2739 | c.44- others(2752): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2732): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 314 | 0.0032 | 2739 | c.-25 others(2756): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2732): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0012 | a0012c0010 | a0012c0010t0001 | a0012c0010t0001g0178 | 1 | 292 | 0.0034 | 2739 | c.218 others(2754): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NPM2_chr8_22019134_22041897 | 22021592 | C | CAAAAGAA others(2732): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG03195.hp1 |
a0003 | a0003c0003a0003c0005 | a0003c0003t0001a0003c0005t0001 | a0003c0003t0001g0158a0003c0005t0001g0157 | 2 | 434 | 0.0046 | 2739 | c.-31 others(2750): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2541 | chr8 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2732): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 |
a0001 | a0001c0006 | a0001c0006t0003a0001c0006t0005 | a0001c0006t0003g0124a0001c0006t0005g0125 | 2 | 128 | 0.0156 | 2739 | c.-93 others(2756): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74467839 | T | TTGCAGTT others(2733): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 200 | 0.0050 | 2740 | c.556 others(2759): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2733): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 342 | 0.0029 | 2740 | c.573 others(2757): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2733): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0133 | 2 | 342 | 0.0059 | 2740 | c.573 others(2757): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2733): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 316 | 0.0032 | 2740 | c.44- others(2753): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2733): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0125 | 1 | 400 | 0.0025 | 2740 | c.-5+ others(2753): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502047 | C | CCCACACC others(2733): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0045 | a0045c0124 | a0045c0124t0003 | a0045c0124t0003g0064 | 1 | 292 | 0.0034 | 2740 | c.218 others(2757): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2733): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 242 | 0.0041 | 2740 | c.917 others(2759): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2733): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(4): Show | 7 | 242 | 0.0289 | 2740 | c.917 others(2759): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARL8B_chr3_5117292_5185911 | 5169354 | A | ACTTCTGG others(2734): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 304 | 0.0033 | 2741 | c.124 others(2758): Show |
ARL8B | ENSG00000134108.14 | transcript | ENST00000256496.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2734): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 316 | 0.0032 | 2741 | c.44- others(2754): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DENND5A_chr11_9133825_9270350 | 9174211 | T | TAGAAAAC others(2734): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 284 | 0.0035 | 2741 | c.190 others(2760): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 8/22 | chr11 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47648666 | T | TGGGAAGT others(2734): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18993.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0034a0004c0003t0003g0035 | 2 | 120 | 0.0167 | 2741 | c.280 others(2760): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47648666 | T | TGGGAAGT others(2734): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0036 | 1 | 120 | 0.0083 | 2741 | c.280 others(2760): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
RNF38_chr9_36331400_36405269 | 36396786 | T | TAAAAAAA others(2734): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 402 | 0.0025 | 2741 | c.12+ others(2756): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2734): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0123 | 1 | 128 | 0.0078 | 2741 | c.-93 others(2758): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2734): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 242 | 0.0041 | 2741 | c.917 others(2760): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(2735): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 260 | 0.0039 | 2742 | c.624 others(2759): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NCAPG2_chr7_158626169_158709804 | 158668331 | C | CCCTTACC others(2735): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 378 | 0.0027 | 2742 | c.147 others(2761): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
SLC12A6_chr15_34224784_34342781 | 34308298 | T | TAGAAATG others(2735): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0273 | 1 | 274 | 0.0037 | 2742 | c.271 others(2761): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2735): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0126 | 1 | 246 | 0.0041 | 2742 | c.482 others(2757): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2735): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117a0001c0001t0003g0118 | 2 | 246 | 0.0081 | 2742 | c.482 others(2757): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
TXN_chr9_110238810_110261507 | 110239503 | T | TAAAAAGT others(2735): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 466 | 0.0022 | 2742 | c.*46 others(2753): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 4306 | chr9 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2735): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0311 | 1 | 386 | 0.0026 | 2742 | c.138 others(2761): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2735): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 242 | 0.0041 | 2742 | c.917 others(2761): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(2736): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0039 | 1 | 40 | 0.0250 | 2743 | c.347 others(2764): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2736): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 246 | 0.0041 | 2743 | c.482 others(2758): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2736): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0114 | 1 | 246 | 0.0041 | 2743 | c.482 others(2758): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2736): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 246 | 0.0041 | 2743 | c.482 others(2758): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
TXN_chr9_110238810_110261507 | 110239503 | T | TAAAAAGT others(2736): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 466 | 0.0022 | 2743 | c.*46 others(2754): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 4306 | chr9 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2736): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0028 | a0001c0028t0023 | a0001c0028t0023g0127 | 1 | 128 | 0.0078 | 2743 | c.-93 others(2760): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49779487 | C | CAAAAAAA others(2737): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 342 | 0.0029 | 2744 | c.68- others(2759): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |