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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLA1A_chr3_119592885_119634811 | 119608202 | A | AAAAGAAA others(43): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0311 | 1 | 195 | 0.0051 | 50 | c.276 others(65): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLAAT3_chr11_63569462_63619433 | 63615018 | A | ATATATAT others(43): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0191 others(23): Show |
26 | 291 | 0.0893 | 50 | c.-68 others(59): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 586 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615018 | A | ATATATAT others(43): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 |
3 | 268 | 0.0112 | 50 | c.-68 others(59): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 586 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615022 | A | ATATATAT others(43): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01361.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0032 others(13): Show |
16 | 270 | 0.0593 | 50 | c.-69 others(59): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 590 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615058 | A | ATGTATAT others(43): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0001g0186 a0001c0001t0001g0188 others(22): Show |
26 | 225 | 0.1156 | 50 | c.-72 others(59): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 626 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615058 | A | ATGTATAT others(43): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG02896.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 a0001c0001t0003g0196 |
3 | 202 | 0.0149 | 50 | c.-72 others(59): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 626 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615064 | G | GTATGTAT others(43): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 141 | 0.0071 | 50 | c.-73 others(59): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 632 | chr11 | TogoVar | |||||||
PLCZ1_chr12_18678180_18743012 | 18698048 | T | TCCTGTCC others(43): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 324 | 0.0031 | 50 | c.117 others(69): Show |
PLCZ1 | ENSG00000139151.16 | transcript | ENST00000266505.12 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393478 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0080 a0001c0001t0004g0093 |
2 | 163 | 0.0123 | 50 | c.190 others(69): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394174 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0037 |
2 | 142 | 0.0141 | 50 | c.190 others(69): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLEC_chr8_143910153_143978529 | 143945022 | C | CGGGCTCA others(43): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18522.hp2 |
a0011a0079 | a0011c0169a0079c0168 | a0011c0169t0001a0079c0168t0001 | a0011c0169t0001g0010 a0079c0168t0001g0012 |
2 | 288 | 0.0069 | 50 | c.71- others(65): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 1/31 | chr8 | TogoVar | |||||||
PLEKHA5_chr12_19124733_19381400 | 19308897 | G | GCGCGTGC others(43): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01243.hp2 HG03195.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0058 a0001c0001t0003g0038 a0001c0001t0003g0042 others(4): Show |
7 | 275 | 0.0255 | 50 | c.203 others(69): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19308897 | G | GCGCGTGC others(43): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0215 | 1 | 269 | 0.0037 | 50 | c.203 others(69): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 92389 | C | CGGGTGGG others(43): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0209 | 1 | 191 | 0.0052 | 50 | c.45+ others(63): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4_chr16_67274532_67294480 | 67275352 | T | TTTGAGAT others(43): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0014 | 1 | 320 | 0.0031 | 50 | c.-44 others(61): Show |
PLEKHG4 | ENSG00000196155.13 | transcript | ENST00000379344.8 | protein_coding | 4179 | chr16 | TogoVar | |||||||
PLGRKT_chr9_5352971_5442925 | 5423869 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 others(3): Show |
6 | 290 | 0.0207 | 50 | c.81+ others(65): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 3/5 | chr9 | TogoVar | |||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(43): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 193 | 0.0052 | 50 | c.212 others(69): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44795612 | A | AAATATAT others(43): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 368 | 0.0027 | 50 | c.-48 others(61): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4764 | chr1 | TogoVar | |||||||
PLK3_chr1_44795377_44810990 | 44796270 | A | AAAATATA others(43): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp2 others(32): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0012t0001 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0012t0001g0002 |
35 | 335 | 0.1045 | 50 | c.-41 others(61): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4106 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56551311 | G | GTTTGCTT others(43): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00738.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0001t0002g0182 a0001c0003t0001g0285 a0001c0003t0004g0011 others(22): Show |
25 | 274 | 0.0912 | 50 | c.140 others(69): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56551311 | G | GTTTGCTT others(43): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01358.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0003 | a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0064 others(7): Show |
10 | 259 | 0.0386 | 50 | c.140 others(69): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56551311 | G | GTTTGCTT others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01255.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0228 a0001c0001t0003g0022 a0001c0001t0003g0054 others(6): Show |
9 | 258 | 0.0349 | 50 | c.140 others(69): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557052 | G | GAAAGAAA others(43): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 159 | 0.0063 | 50 | c.140 others(69): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557056 | G | GAAAGAAA others(43): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03540.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0002g0018 a0001c0001t0002g0169 a0001c0001t0007g0138 others(2): Show |
5 | 92 | 0.0543 | 50 | c.140 others(69): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17349162 | C | CTTTCTTT others(43): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 NA18945.hp1 NA18973.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0310 others(1): Show |
4 | 407 | 0.0098 | 50 | c.*31 others(61): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2292 | chr19 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128087 | C | CTATGTAT others(43): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00741.hp2 others(6): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0013others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0003g0130 a0001c0001t0004g0180 a0001c0001t0004g0239 others(6): Show |
9 | 138 | 0.0652 | 50 | c.255 others(69): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128087 | C | CTATGTAT others(43): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02735.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0002 | a0001c0001t0001g0159 a0001c0001t0006g0160 a0001c0002t0002g0100 |
3 | 132 | 0.0227 | 50 | c.255 others(69): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20126543 | C | CGTTATAT others(43): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0004 | a0004c0004t0040 | a0004c0004t0040g0134 | 1 | 71 | 0.0141 | 50 | c.542 others(69): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126712 | T | TAACACAC others(43): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0104 | 1 | 102 | 0.0098 | 50 | c.542 others(69): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126767 | C | CACACACG others(43): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0023 | 1 | 175 | 0.0057 | 50 | c.542 others(69): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18965.hp1 NA18982.hp2 |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0035a0002c0002t0093 | a0002c0002t0007g0038 a0002c0002t0035g0116 a0002c0002t0093g0119 |
3 | 136 | 0.0221 | 50 | c.131 others(69): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50302272 | T | TCAGGGCT others(43): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0221 | 1 | 300 | 0.0033 | 50 | c.-74 others(67): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 1/36 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(43): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 200 | 0.0050 | 50 | c.-45 others(61): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | |||||||
PNLDC1_chr6_159795276_159825704 | 159823254 | T | TGTATTTG others(43): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 398 | 0.0025 | 50 | c.*27 others(61): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 2551 | chr6 | TogoVar | |||||||
PNLIPRP1_chr10_116585959_116614175 | 116599256 | G | GAAAATAA others(43): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0139 | 1 | 62 | 0.0161 | 50 | c.815 others(65): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNLIPRP1_chr10_116585959_116614175 | 116605868 | T | TGAATAGC others(43): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 418 | 0.0024 | 50 | c.134 others(67): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282055 | A | AAGAAAGA others(43): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0007 | a0003c0007t0021 | a0003c0007t0021g0362 | 1 | 384 | 0.0026 | 50 | c.206 others(67): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG00140.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 2 | 73 | 0.0274 | 50 | c.438 others(65): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132687216 | G | GAGGGCCG others(43): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 290 | 0.0034 | 50 | c.50_ others(58): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 1/48 | chr12 | TogoVar | |||||||
POLR3G_chr5_90469864_90519557 | 90514755 | A | AACACACA others(43): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 130 | 0.0077 | 50 | c.*26 others(61): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 199 | chr5 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75952094 | A | ACCCCCCC others(43): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01070.hp2 others(15): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0002c0001others(2): Show | a0001c0003t0001a0001c0004t0001a0002c0001t0001others(3): Show | a0001c0003t0001g0102 a0001c0003t0001g0230 a0001c0004t0001g0098 others(15): Show |
18 | 271 | 0.0664 | 50 | c.-13 others(67): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75952143 | A | ACCCCCCC others(43): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 263 | 0.0038 | 50 | c.-13 others(67): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75952143 | A | ACCCCCCC others(43): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0001a0001c0007t0005 | a0001c0006t0001g0235 a0001c0007t0001g0242 a0001c0007t0001g0244 others(1): Show |
4 | 266 | 0.0150 | 50 | c.-13 others(67): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988764 | A | AAGAAGGC others(43): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0129 | 1 | 268 | 0.0037 | 50 | c.*22 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1910 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988765 | A | AGAAGGCC others(43): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp2 NA18943.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0002c0008others(2): Show | a0001c0002t0001a0002c0001t0002a0002c0008t0001others(3): Show | a0001c0002t0001g0115 a0002c0001t0002g0218 a0002c0008t0001g0197 others(4): Show |
7 | 224 | 0.0313 | 50 | c.*22 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1911 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988765 | A | AGAAGGCC others(43): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0232 | 1 | 218 | 0.0046 | 50 | c.*22 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1911 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988901 | T | TGGGGGGG others(43): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0240 | 1 | 206 | 0.0049 | 50 | c.*24 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2047 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988901 | T | TGGGGGGG others(43): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 NA19068.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0188 a0002c0001t0002g0210 |
2 | 207 | 0.0097 | 50 | c.*24 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2047 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988926 | T | TGGGGGGG others(43): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0258 | 1 | 172 | 0.0058 | 50 | c.*24 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2072 | chr7 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70206860 | A | AGGAGGGG others(43): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 a0001c0001t0003g0238 |
2 | 384 | 0.0052 | 50 | c.726 others(65): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar |