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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OCLN_chr5_69487790_69563104 | 69515579 | C | CGGGGGGC others(92): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 282 | 0.0035 | 99 | c.891 others(116): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ODF3_chr11_191761_205258 | 196113 | C | CTGGTGAG others(92): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0023 |
22 | 245 | 0.0898 | 99 | c.-94 others(108): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 647 | chr11 | TogoVar | |||||||
OR11H6_chr14_20218710_20229702 | 20228791 | G | GTAAATAA others(92): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 448 | 0.0022 | 99 | c.*40 others(110): Show |
OR11H6 | ENSG00000176219.3 | transcript | ENST00000315519.3 | protein_coding | 4090 | chr14 | TogoVar | |||||||
OR1F1_chr16_3183204_3211556 | 3207170 | G | GGAAGGGA others(92): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0199 | 1 | 296 | 0.0034 | 99 | c.*19 others(110): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 615 | chr16 | TogoVar | |||||||
OR4X1_chr11_48258861_48269778 | 48268292 | C | CTTTTATT others(92): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 62 | 0.0161 | 99 | c.*35 others(110): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 3515 | chr11 | TogoVar | |||||||
OR4X1_chr11_48258861_48269778 | 48268292 | C | CTTTTATT others(92): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 62 | 0.0161 | 99 | c.*35 others(110): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 3515 | chr11 | TogoVar | |||||||
OR4X1_chr11_48258861_48269778 | 48268292 | C | CTTTTATT others(92): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01255.hp1 others(5): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0003 | a0002c0002t0001a0002c0004t0001a0003c0003t0001 | a0002c0002t0001g0000 a0002c0004t0001g0000 a0003c0003t0001g0000 |
8 | 69 | 0.1159 | 99 | c.*35 others(110): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 3515 | chr11 | TogoVar | |||||||
OR4X1_chr11_48258861_48269778 | 48268292 | C | CTTTTATT others(92): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00741.hp1 others(73): Show |
a0002a0003a0005 | a0002c0002a0002c0004a0002c0007others(2): Show | a0002c0002t0001a0002c0004t0001a0002c0007t0001others(2): Show | a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0007t0001g0000 others(2): Show |
76 | 137 | 0.5547 | 99 | c.*35 others(110): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 3515 | chr11 | TogoVar | |||||||
OR4X1_chr11_48258861_48269778 | 48268293 | T | TTTTATTT others(92): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02717.hp2 others(2): Show |
a0002a0003 | a0002c0005a0003c0003 | a0002c0005t0001a0003c0003t0001 | a0002c0005t0001g0000 a0003c0003t0001g0000 |
5 | 397 | 0.0126 | 99 | c.*35 others(110): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 3516 | chr11 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1474367 | A | ATGAGTGG others(92): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 75 | 0.0133 | 99 | c.-24 others(116): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1474367 | A | ATGAGTGG others(92): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(35): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 others(35): Show |
38 | 112 | 0.3393 | 99 | c.-24 others(116): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P4HA2_chr5_132185147_132232853 | 132208397 | G | GGGGAGGA others(92): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0276 | 1 | 422 | 0.0024 | 99 | c.904 others(114): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162947347 | T | TATATGAT others(92): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0002g0086 a0001c0001t0003g0036 |
3 | 82 | 0.0366 | 99 | c.292 others(120): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162947347 | T | TATATGAT others(92): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 80 | 0.0125 | 99 | c.292 others(120): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162947347 | T | TATGTGAT others(92): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01169.hp1 HG01169.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0043 others(21): Show |
24 | 103 | 0.2330 | 99 | c.292 others(120): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
PARP16_chr15_65253099_65291883 | 65269200 | C | CTCTCTCT others(92): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 310 | 0.0032 | 99 | c.312 others(116): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
PAXIP1_chr7_154938690_155008124 | 154977889 | T | TAACTTTT others(92): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 338 | 0.0030 | 99 | c.439 others(116): Show |
PAXIP1 | ENSG00000157212.20 | transcript | ENST00000404141.6 | protein_coding | 5/20 | chr7 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 720590 | A | AGTGACGT others(92): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0074 | 1 | 362 | 0.0028 | 99 | c.-18 others(120): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910043 | T | TCCCCCTC others(92): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG02970.hp1 |
a0001a0013 | a0001c0001a0013c0021 | a0001c0001t0002a0001c0001t0038a0013c0021t0017 | a0001c0001t0002g0034 a0001c0001t0038g0032 a0013c0021t0017g0033 |
3 | 346 | 0.0087 | 99 | c.153 others(116): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311962 | C | CCCCTCAC others(92): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 a0001c0001t0002g0161 |
2 | 220 | 0.0091 | 99 | c.269 others(118): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42778563 | G | GCCCCCGC others(92): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0129 a0001c0001t0002g0141 a0001c0002t0001g0039 others(6): Show |
9 | 191 | 0.0471 | 99 | c.*32 others(110): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3055 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42778600 | T | TGGGGGGG others(92): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0299 | 1 | 322 | 0.0031 | 99 | c.*33 others(110): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3092 | chr21 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104084787 | A | ATATAAAA others(92): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0005 | a0001c0001t0009g0192 a0001c0002t0005g0191 |
2 | 93 | 0.0215 | 99 | c.124 others(118): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285931 | C | CCCCAACC others(92): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0074 | 1 | 376 | 0.0027 | 99 | c.111 others(116): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741188 | G | GGGGGGCT others(92): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 308 | 0.0032 | 99 | c.143 others(114): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741407 | G | GGGGGGCT others(92): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 292 | 0.0034 | 99 | c.143 others(114): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGCT others(92): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 214 | 0.0047 | 99 | c.143 others(114): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGCT others(92): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0099 | 1 | 214 | 0.0047 | 99 | c.143 others(114): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(92): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 14 | 0.0714 | 99 | c.*48 others(110): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(92): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 14 | 0.0714 | 99 | c.*48 others(110): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(92): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 14 | 0.0714 | 99 | c.*48 others(110): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(92): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 14 | 0.0714 | 99 | c.*48 others(110): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(92): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 14 | 0.0714 | 99 | c.*48 others(110): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(92): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 14 | 0.0714 | 99 | c.*48 others(110): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196615 | A | ATACATAA others(92): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02129.hp2 HG02451.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0282 a0002c0002t0005g0283 a0002c0002t0005g0284 others(1): Show |
4 | 423 | 0.0095 | 99 | c.449 others(116): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6206548 | A | ACCTCCCG others(92): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0340 | 1 | 429 | 0.0023 | 99 | c.76+ others(114): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6206554 | C | CGGACGGG others(92): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0007 | a0002c0007t0014 | a0002c0007t0014g0379 | 1 | 430 | 0.0023 | 99 | c.76+ others(114): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085757 | C | CAGCACAG others(92): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00735.hp1 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0003g0379 others(41): Show |
44 | 252 | 0.1746 | 99 | c.186 others(116): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085819 | C | CACCCCCT others(92): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01978.hp1 HG03927.hp1 |
a0001a0005 | a0001c0007a0001c0009a0005c0063 | a0001c0007t0005a0001c0009t0001a0005c0063t0005 | a0001c0007t0005g0367 a0001c0009t0001g0044 a0005c0063t0005g0246 |
3 | 399 | 0.0075 | 99 | c.186 others(116): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3085826 | T | TCCCCAGG others(92): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0327 | 1 | 400 | 0.0025 | 99 | c.186 others(116): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674397 | T | TCCTTCTC others(92): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 120 | 0.0083 | 99 | c.119 others(118): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62898015 | C | CTTCTCCT others(92): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 115 | 0.0087 | 99 | c.244 others(118): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PIGG_chr4_494210_545200 | 541978 | A | AATATATA others(92): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0018 | a0018c0026 | a0018c0026t0002 | a0018c0026t0002g0036 | 1 | 244 | 0.0041 | 99 | c.*26 others(110): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 1779 | chr4 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354024 | G | GATATCTA others(92): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0100 | 1 | 340 | 0.0029 | 99 | c.176 others(118): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401787 | C | CCCCGCTC others(92): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 193 | 0.0052 | 99 | c.173 others(118): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLIN4_chr19_4497192_4523486 | 4511422 | A | AGTCCCTT others(92): Show |
disruptive_inframe_insertion | MODERATE | NA18522.hp2 | a0020 | a0020c0028 | a0020c0028t0004 | a0020c0028t0004g0054 | 1 | 43 | 0.0233 | 99 | c.253 others(108): Show |
p.Ala others(112): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2656/6502 | 2537/4116 | 846/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511479 | A | ACCCGTTA others(92): Show |
disruptive_inframe_insertion | MODERATE | NA18522.hp2 | a0020 | a0020c0028 | a0020c0028t0004 | a0020c0028t0004g0054 | 1 | 43 | 0.0233 | 99 | c.248 others(108): Show |
p.Gly others(112): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2599/6502 | 2480/4116 | 827/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511896 | C | CGTGTCTA others(92): Show |
disruptive_inframe_insertion | MODERATE | HG03098.hp2 HG03209.hp1 |
a0018 | a0018c0038 | a0018c0038t0013 | a0018c0038t0013g0265 a0018c0038t0013g0266 |
2 | 208 | 0.0096 | 99 | c.206 others(108): Show |
p.Thr others(112): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2182/6502 | 2063/4116 | 688/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4512537 | C | CGGTCACC others(92): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp2 | a0032 | a0032c0056 | a0032c0056t0001 | a0032c0056t0001g0094 | 1 | 410 | 0.0024 | 99 | c.142 others(108): Show |
p.Thr others(112): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 1541/6502 | 1422/4116 | 474/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4513132 | A | AGTCACCC others(92): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp1 HG02074.hp1 NA19079.hp2 |
a0016a0026 | a0016c0043a0016c0084a0026c0083 | a0016c0043t0001a0016c0084t0002a0026c0083t0002 | a0016c0043t0001g0076 a0016c0084t0002g0149 a0026c0083t0002g0148 |
3 | 10 | 0.3000 | 99 | c.827 others(106): Show |
p.Thr others(112): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 946/6502 | 827/4116 | 276/1371 | chr19 | TogoVar |