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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLAAT3_chr11_63569462_63619433 | 63615050 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0027 |
2 | 330 | 0.0061 | 42 | c.-72 others(51): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 618 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615056 | A | ATATATGT others(35): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 a0001c0001t0001g0318 |
2 | 326 | 0.0061 | 42 | c.-72 others(51): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 624 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615064 | G | GTGTATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 141 | 0.0071 | 42 | c.-73 others(51): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 632 | chr11 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0317 | 1 | 234 | 0.0043 | 42 | c.-27 others(59): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0325 | 1 | 234 | 0.0043 | 42 | c.-27 others(59): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLCD4_chr2_218602899_218642175 | 218616927 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 157 | 0.0064 | 42 | c.181 others(57): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2483833 | G | GGGGGGCG others(35): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 2 | 382 | 0.0052 | 42 | c.646 others(57): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2483920 | G | GGGGGGCG others(35): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 380 | 0.0026 | 42 | c.646 others(57): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 281101 | G | GGTACGTG others(35): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0042 others(36): Show |
41 | 144 | 0.2847 | 42 | c.-60 others(51): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 279 | chrX | TogoVar | |||||||
PLEKHA2_chr8_38896346_38978912 | 38933790 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0180 | 1 | 246 | 0.0041 | 42 | c.142 others(59): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19308897 | G | GCGCGTGC others(35): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0013 | a0003c0013t0014 | a0003c0013t0014g0050 | 1 | 269 | 0.0037 | 42 | c.203 others(61): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150671088 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0015 | a0015c0057 | a0015c0057t0001 | a0015c0057t0001g0227 | 1 | 79 | 0.0127 | 42 | c.-99 others(61): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG7_chr12_92697989_92777455 | 92741585 | T | TCACAAAG others(35): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0014 | a0014c0019 | a0014c0019t0003 | a0014c0019t0003g0164 | 1 | 250 | 0.0040 | 42 | c.113 others(54): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43726957 | T | TTTTTCAT others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp2 HG02976.hp2 others(3): Show |
a0005a0012a0017 | a0005c0010a0005c0038a0012c0017others(1): Show | a0005c0010t0006a0005c0038t0006a0012c0017t0006others(1): Show | a0005c0010t0006g0135 a0005c0010t0006g0206 a0005c0038t0006g0093 others(3): Show |
6 | 254 | 0.0236 | 42 | c.272 others(59): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLEKHM1_chr17_45430900_45495721 | 45431305 | G | GTCTCCGC others(35): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 324 | 0.0031 | 42 | c.*65 others(53): Show |
PLEKHM1 | ENSG00000225190.12 | transcript | ENST00000430334.8 | protein_coding | 4594 | chr17 | TogoVar | |||||||
PLEKHM3_chr2_207816288_208030527 | 207820821 | A | AATATTGT others(35): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 NA19030.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0049a0001c0008t0052 | a0001c0002t0049g0189 a0001c0008t0052g0173 |
2 | 198 | 0.0101 | 42 | c.*74 others(53): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 466 | chr2 | TogoVar | |||||||
PLEKHM3_chr2_207816288_208030527 | 207865801 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 97 | 0.0103 | 42 | c.195 others(61): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
PLEKHM3_chr2_207816288_208030527 | 207865801 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0115 | 1 | 97 | 0.0103 | 42 | c.195 others(61): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
PLGRKT_chr9_5352971_5442925 | 5439900 | T | TATGCATG others(35): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 412 | 0.0024 | 42 | c.-22 others(53): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 1976 | chr9 | TogoVar | |||||||
PLG_chr6_160697244_160759097 | 160748348 | A | AAGAGAAA others(35): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 327 | 0.0031 | 42 | c.212 others(61): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748348 | A | AAGAGAAA others(35): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0327 | 1 | 327 | 0.0031 | 42 | c.212 others(61): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18952.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 a0001c0002t0001g0126 |
2 | 194 | 0.0103 | 42 | c.212 others(61): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0125 | 1 | 193 | 0.0052 | 42 | c.212 others(61): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748370 | A | AAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 3 | 381 | 0.0079 | 42 | c.212 others(61): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44796248 | T | TATATAAA others(35): Show |
upstream_gene_variant | MODIFIER | NA18984.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0035 | 1 | 380 | 0.0026 | 42 | c.-42 others(53): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4128 | chr1 | TogoVar | |||||||
PLK3_chr1_44795377_44810990 | 44797983 | A | AAAAAAAA others(35): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 125 | 0.0080 | 42 | c.-24 others(53): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291603 | A | AGAGGGGG others(35): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0138 | 1 | 345 | 0.0029 | 42 | c.-26 others(51): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 201 | chr19 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56518715 | T | TTACATAT others(35): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0117 | 1 | 163 | 0.0061 | 42 | c.633 others(59): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557052 | G | GAAAGAAA others(35): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 159 | 0.0063 | 42 | c.140 others(61): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557056 | G | GAAAGAAA others(35): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01109.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0051 others(10): Show |
13 | 100 | 0.1300 | 42 | c.140 others(61): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPPR1_chr9_101023727_101330135 | 101078102 | G | GAGAAGGA others(35): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 132 | 0.0076 | 42 | c.-46 others(61): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101078102 | G | GAGAAGGA others(35): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0097 | 1 | 132 | 0.0076 | 42 | c.-46 others(61): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101078102 | G | GAGAAGGA others(35): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02129.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019 | a0001c0001t0001g0156 a0001c0001t0001g0174 a0001c0001t0004g0071 others(1): Show |
4 | 135 | 0.0296 | 42 | c.-46 others(61): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLS3_chrX_115556174_115655861 | 115619508 | A | AACTGCAG others(35): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 252 | 0.0040 | 42 | c.74- others(57): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLS3_chrX_115556174_115655861 | 115630820 | A | AATACATG others(35): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 250 | 0.0040 | 42 | c.500 others(57): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349162 | C | CTTTCTTT others(35): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0263 a0001c0001t0002g0006 |
2 | 405 | 0.0049 | 42 | c.*31 others(53): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2292 | chr19 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128097 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 162 | 0.0062 | 42 | c.255 others(61): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128165 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027 | 1 | 106 | 0.0094 | 42 | c.255 others(61): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0040 | 1 | 134 | 0.0075 | 42 | c.131 others(61): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01258.hp2 NA18747.hp2 NA18954.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0052a0002c0002t0110 | a0002c0002t0002g0165 a0002c0002t0002g0175 a0002c0002t0052g0174 others(1): Show |
4 | 137 | 0.0292 | 42 | c.131 others(61): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0012 | 1 | 134 | 0.0075 | 42 | c.131 others(61): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132562956 | T | TCCCTCCT others(35): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0042 | 1 | 62 | 0.0161 | 42 | c.-87 others(61): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50285346 | C | CACCTGAG others(35): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18975.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0057 a0004c0004t0002g0176 |
2 | 295 | 0.0068 | 42 | c.208 others(59): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50285416 | C | CCCCCCTC others(35): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154 | 1 | 300 | 0.0033 | 42 | c.208 others(59): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50285743 | A | ACCCCTCC others(35): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG00735.hp2 others(34): Show |
a0002a0004a0005others(5): Show | a0002c0007a0002c0009a0002c0065others(10): Show | a0002c0007t0001a0002c0009t0002a0002c0065t0001others(11): Show | a0002c0007t0001g0001 a0002c0007t0001g0012 a0002c0007t0001g0058 others(31): Show |
37 | 256 | 0.1445 | 42 | c.208 others(57): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50285761 | G | GAGCCTGC others(35): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01168.hp2 others(7): Show |
a0002a0004a0005others(4): Show | a0002c0009a0004c0004a0005c0016others(5): Show | a0002c0009t0002a0004c0004t0002a0005c0016t0002others(5): Show | a0002c0009t0002g0015 a0002c0009t0002g0021 a0004c0004t0002g0156 others(7): Show |
10 | 111 | 0.0901 | 42 | c.208 others(57): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853447 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03195.hp2 others(2): Show |
a0002 | a0002c0009a0002c0016 | a0002c0009t0001a0002c0016t0003 | a0002c0009t0001g0016 a0002c0009t0001g0112 a0002c0016t0003g0008 |
5 | 404 | 0.0124 | 42 | c.-33 others(53): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3316 | chr1 | TogoVar | |||||||
PMF1_chr1_156208007_156245042 | 156229349 | G | GCCCCGGT others(35): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0086 | 1 | 362 | 0.0028 | 42 | c.162 others(59): Show |
PMF1 | ENSG00000160783.19 | transcript | ENST00000368277.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(35): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 243 | 0.0041 | 42 | c.-45 others(53): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594378 | T | TGGGGGGG others(35): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 296 | 0.0034 | 42 | c.-45 others(53): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4539 | chr22 | TogoVar |