view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3019): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 49 | 0.0204 | 3026 | c.192 others(3045): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043975 | C | CCCCACCT others(3019): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 303 | 0.0033 | 3026 | c.-44 others(3037): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4407 | chr15 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3020): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 62 | 0.0161 | 3027 | c.*24 others(3038): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3020): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 62 | 0.0161 | 3027 | c.*24 others(3038): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3020): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 62 | 0.0161 | 3027 | c.*24 others(3038): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(3020): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0319 | 1 | 282 | 0.0035 | 3027 | c.265 others(3048): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(3020): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0341 | 1 | 282 | 0.0035 | 3027 | c.265 others(3048): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3020): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 7 | 0.1429 | 3027 | c.*27 others(3038): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3020): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 7 | 0.1429 | 3027 | c.*27 others(3038): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(3020): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 38 | 0.0263 | 3027 | c.*19 others(3038): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3020): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 264 | 0.0038 | 3027 | c.-34 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3020): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 264 | 0.0038 | 3027 | c.-34 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3020): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 264 | 0.0038 | 3027 | c.-34 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3020): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(33): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(24): Show |
36 | 299 | 0.1204 | 3027 | c.-34 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3020): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 HG02165.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 266 | 0.0113 | 3027 | c.-34 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3020): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01258.hp1 HG02015.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0168 others(2): Show |
5 | 268 | 0.0187 | 3027 | c.-34 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3020): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 264 | 0.0038 | 3027 | c.-34 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043408 | G | GGGTGACT others(3020): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 NA18960.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0235 a0001c0001t0001g0239 |
3 | 346 | 0.0087 | 3027 | c.-38 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3840 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043430 | A | AGGCCAGA others(3020): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 322 | 0.0031 | 3027 | c.-38 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3862 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043533 | T | TCACACCT others(3020): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 328 | 0.0030 | 3027 | c.-39 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3965 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043554 | A | AGGAGGAC others(3020): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 338 | 0.0030 | 3027 | c.-40 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3986 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043827 | C | CATAACCC others(3020): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0145 a0001c0001t0001g0198 a0001c0001t0001g0206 others(1): Show |
4 | 350 | 0.0114 | 3027 | c.-42 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4259 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043940 | C | CCCACCTG others(3020): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0200 |
2 | 317 | 0.0063 | 3027 | c.-43 others(3038): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4372 | chr15 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACACCCCA others(3020): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 295 | 0.0034 | 3027 | c.*35 others(3046): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063860 | G | GAGGGAAG others(3020): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 154 | 0.0065 | 3027 | c.*54 others(3038): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2295 | chr13 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954440 | A | GGGGAGGG others(3020): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 96 | 0.0104 | 3027 | c.-28 others(3046): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(3021): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 7 | 0.1429 | 3028 | c.*16 others(3039): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(3021): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 7 | 0.1429 | 3028 | c.*22 others(3039): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3021): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0121 | 1 | 4 | 0.2500 | 3028 | c.115 others(3047): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562745 | A | AGAAAAAC others(3021): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0034 | 1 | 378 | 0.0026 | 3028 | c.-36 others(3039): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 3629 | chr6 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(3021): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261 | 1 | 297 | 0.0034 | 3028 | c.-91 others(3049): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3021): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 62 | 0.0161 | 3028 | c.*24 others(3039): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(3021): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0343 | 1 | 282 | 0.0035 | 3028 | c.265 others(3049): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731928 | C | CGGGGTGT others(3021): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0015 | a0015c0040 | a0015c0040t0001 | a0015c0040t0001g0151 | 1 | 265 | 0.0038 | 3028 | c.299 others(3043): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(3021): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 82 | 0.0122 | 3028 | c.147 others(3045): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3021): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 7 | 0.1429 | 3028 | c.*27 others(3039): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3021): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 23 | 0.0435 | 3028 | c.284 others(3047): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3021): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 264 | 0.0038 | 3028 | c.-34 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3021): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0195 |
2 | 265 | 0.0075 | 3028 | c.-34 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3021): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 264 | 0.0038 | 3028 | c.-34 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3021): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 264 | 0.0038 | 3028 | c.-34 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3021): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 264 | 0.0038 | 3028 | c.-34 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3021): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 264 | 0.0038 | 3028 | c.-34 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(3021): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 264 | 0.0038 | 3028 | c.-34 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043443 | T | TGGGGGGG others(3021): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 297 | 0.0034 | 3028 | c.-39 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3875 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043520 | T | TGGGACTT others(3021): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 326 | 0.0031 | 3028 | c.-39 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3952 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043627 | T | TGGGGGGG others(3021): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 339 | 0.0029 | 3028 | c.-40 others(3039): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4059 | chr15 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3021): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 62 | 0.0161 | 3028 | c.*53 others(3039): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3021): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 62 | 0.0161 | 3028 | c.*53 others(3039): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(3022): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0034 | a0034c0066 | a0034c0066t0009 | a0034c0066t0009g0104 | 1 | 13 | 0.0769 | 3029 | c.354 others(3048): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar |