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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(793): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02976.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0144a0001c0001t0001g0164a0001c0001t0001g0169others(2): Show | 5 | 374 | 0.0134 | 800 | c.-51 others(811): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(793): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 374 | 0.0027 | 800 | c.-51 others(811): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATAAA others(793): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03579.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0024 | 3 | 344 | 0.0087 | 800 | c.617 others(817): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176046 | C | CTGCCAGC others(793): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18956.hp1 NA19087.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0012a0002c0003t0012 | a0001c0002t0012g0164a0001c0002t0012g0181a0002c0003t0012g0024 | 3 | 444 | 0.0068 | 800 | c.-40 others(813): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GMDS_chr6_1618806_2250605 | 2201390 | A | AAACCATC others(793): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0040a0001c0001t0002g0121a0001c0002t0002g0050 | 3 | 166 | 0.0181 | 800 | c.102 others(819): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(793): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0010 | a0010c0031 | a0010c0031t0038 | a0010c0031t0038g0029 | 1 | 308 | 0.0033 | 800 | c.341 others(815): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(793): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0108 | 1 | 114 | 0.0088 | 800 | c.*80 others(811): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602382 | C | CCCTCCTC others(793): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0029 | a0003c0029t0004 | a0003c0029t0004g0104 | 1 | 408 | 0.0025 | 800 | c.633 others(817): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(793): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 323 | 0.0031 | 800 | c.-27 others(811): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322329 | T | TGGAATAT others(793): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 NA19083.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009a0002c0002t0002g0168 | 2 | 323 | 0.0062 | 800 | c.-27 others(811): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2640 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322337 | A | ATATATGC others(793): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 323 | 0.0031 | 800 | c.-27 others(811): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2632 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(793): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 323 | 0.0031 | 800 | c.-21 others(811): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323342 | G | GAATATAT others(793): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 323 | 0.0031 | 800 | c.-17 others(811): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1627 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163304 | C | CCCTCCCT others(793): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0032 | 1 | 282 | 0.0036 | 800 | c.258 others(817): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(793): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 312 | 0.0032 | 800 | c.-41 others(815): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(793): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 312 | 0.0032 | 800 | c.-41 others(815): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(793): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0111 | 1 | 386 | 0.0026 | 800 | c.-46 others(811): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(793): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 800 | c.-27 others(811): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACGCTT others(793): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0251 | 1 | 290 | 0.0035 | 800 | c.129 others(817): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(793): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0058 | a0058c0112 | a0058c0112t0041 | a0058c0112t0041g0248 | 1 | 292 | 0.0034 | 800 | c.218 others(815): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81717 | G | GGGAAGGC others(793): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 442 | 0.0023 | 800 | c.301 others(817): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MPG_chr16_73225_90846 | 81914 | G | GCTGGCCC others(793): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 442 | 0.0023 | 800 | c.301 others(817): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79532331 | C | CTGCAGCC others(793): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 322 | 0.0031 | 800 | c.*47 others(811): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3009 | chr18 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(793): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0003 | a0003c0004 | a0003c0004t0049 | a0003c0004t0049g0271 | 1 | 326 | 0.0031 | 800 | c.433 others(817): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 810309 | G | GTGGCGTG others(793): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 242 | 0.0041 | 800 | c.821 others(817): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 810309 | G | GTGGCGTG others(793): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00639.hp1 others(43): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0029others(43): Show | 46 | 242 | 0.1901 | 800 | c.821 others(817): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 810309 | G | GTGGCGTG others(793): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 242 | 0.0041 | 800 | c.821 others(817): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 810309 | G | GTGGCGTG others(793): Show |
intron_variant | MODIFIER | HG00733.hp2 NA18951.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038a0001c0001t0003g0143a0001c0001t0003g0153 | 3 | 242 | 0.0124 | 800 | c.821 others(817): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 810309 | G | GTGGCGTG others(793): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 242 | 0.0041 | 800 | c.821 others(817): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 810309 | G | GTGGCGTG others(793): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 242 | 0.0041 | 800 | c.821 others(817): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 810309 | G | GTGGCGTG others(793): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 242 | 0.0041 | 800 | c.821 others(817): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4012047 | G | GGGTGTGG others(793): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0236 | 1 | 334 | 0.0030 | 800 | c.28- others(813): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88712963 | G | GCCCCCCT others(793): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0014 | a0014c0010 | a0014c0010t0024 | a0014c0010t0024g0280 | 1 | 282 | 0.0036 | 800 | c.*26 others(811): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2374 | chr16 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(793): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0314 | 1 | 332 | 0.0030 | 800 | c.112 others(817): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(793): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 188 | 0.0053 | 800 | c.147 others(817): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 459194 | C | CGGACCTG others(793): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 346 | 0.0029 | 800 | c.183 others(815): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTPRH_chr19_55176247_55214501 | 55207808 | T | TCCTGGGT others(793): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0178 | 1 | 378 | 0.0027 | 800 | c.52- others(813): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 235251 | A | AGGGTTCA others(793): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 133 | 0.0075 | 800 | c.613 others(819): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 235985 | C | CTAACAAG others(793): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0002 | 2 | 133 | 0.0150 | 800 | c.613 others(819): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289395 | C | CCGTGTCT others(793): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 290 | 0.0035 | 800 | c.166 others(817): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(793): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0018 | a0001c0018t0008 | a0001c0018t0008g0242 | 1 | 280 | 0.0036 | 800 | c.89- others(813): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44302613 | T | TAGCAGGG others(793): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0309 | a0001c0309t0020 | a0001c0309t0020g0244 | 1 | 380 | 0.0026 | 800 | c.-32 others(817): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(793): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 350 | 0.0029 | 800 | c.624 others(815): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(793): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0027 | 1 | 420 | 0.0024 | 800 | c.107 others(817): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(793): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0141 | 1 | 420 | 0.0024 | 800 | c.107 others(817): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(793): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0019 | 1 | 420 | 0.0024 | 800 | c.107 others(817): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121185814 | G | GAATGAGT others(793): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0012 | a0012c0060 | a0012c0060t0002 | a0012c0060t0002g0025 | 1 | 348 | 0.0029 | 800 | c.600 others(819): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1291223 | G | GACGGCAC others(793): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 392 | 0.0026 | 800 | c.157 others(819): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1291227 | C | CGCCTCAC others(793): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 392 | 0.0026 | 800 | c.157 others(819): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(793): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 272 | 0.0037 | 800 | c.*29 others(811): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar |