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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEBP4_chr8_22708251_22932914 | 22878210 | T | TGGAGAGG others(41): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0006 | 1 | 191 | 0.0052 | 48 | c.258 others(67): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PECAM1_chr17_64314415_64395860 | 64377617 | A | AAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01255.hp2 HG02572.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0019 | a0001c0001t0001a0003c0019t0003 | a0001c0001t0001g0035 a0001c0001t0001g0182 a0001c0001t0001g0183 others(7): Show |
10 | 152 | 0.0658 | 48 | c.385 others(63): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
PERCC1_chr16_1426078_1439441 | 1429071 | C | CCTGGGCT others(41): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(66): Show |
297 | 376 | 0.7899 | 48 | c.-20 others(59): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2006 | chr16 | TogoVar | |||||||
PEX2_chr8_76975258_77005078 | 76996967 | G | GTAGAATG others(41): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0084 | 1 | 410 | 0.0024 | 48 | c.-16 others(67): Show |
PEX2 | ENSG00000164751.15 | transcript | ENST00000357039.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196999 | A | ATAATTAT others(41): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0262 |
2 | 410 | 0.0049 | 48 | c.449 others(65): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197144 | A | ATAATTAT others(41): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(64): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0020 others(39): Show |
67 | 390 | 0.1718 | 48 | c.449 others(65): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197257 | A | AATAATTA others(41): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 426 | 0.0023 | 48 | c.449 others(65): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197264 | A | ATGTCATA others(41): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01070.hp2 HG01346.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0005a0002c0002t0005a0003c0004t0005 | a0001c0001t0005g0197 a0001c0001t0005g0199 a0002c0002t0005g0282 others(4): Show |
7 | 422 | 0.0166 | 48 | c.449 others(65): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197264 | A | ATGTCATA others(41): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0196 | 1 | 416 | 0.0024 | 48 | c.449 others(65): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197366 | T | TATATATG others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 others(1): Show |
4 | 426 | 0.0094 | 48 | c.449 others(65): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3062574 | C | CTCATTCA others(41): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0004a0001c0008a0001c0017others(2): Show | a0001c0004t0004a0001c0008t0005a0001c0017t0010others(2): Show | a0001c0004t0004g0358 a0001c0008t0005g0400 a0001c0017t0010g0359 others(2): Show |
5 | 139 | 0.0360 | 48 | c.-50 others(59): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 4973 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3084693 | C | CAGTCCTC others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG02559.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0007others(1): Show | a0001c0002t0004a0001c0005t0002a0001c0005t0007others(2): Show | a0001c0002t0004g0103 a0001c0002t0004g0184 a0001c0005t0002g0005 others(5): Show |
8 | 119 | 0.0672 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084693 | C | CAGTCCTC others(41): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(39): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(25): Show | a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0001t0003g0167 others(39): Show |
42 | 153 | 0.2745 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084751 | G | GCCCCTCC others(41): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01981.hp1 |
a0001a0006 | a0001c0001a0006c0061 | a0001c0001t0003a0006c0061t0003 | a0001c0001t0003g0001 a0006c0061t0003g0286 |
2 | 339 | 0.0059 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084751 | G | GCCCCTCC others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00621.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0003g0057 others(26): Show |
29 | 366 | 0.0792 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085115 | C | CCCTCCCC others(41): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02027.hp2 HG02083.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(4): Show | a0001c0001t0002g0345 a0001c0001t0008g0342 a0001c0002t0002g0347 others(6): Show |
9 | 303 | 0.0297 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085121 | T | TCCAGCAC others(41): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01928.hp1 HG01975.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0001 a0001c0001t0003g0261 a0001c0001t0003g0284 others(6): Show |
10 | 179 | 0.0559 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085163 | T | TCCCTCCC others(41): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0344 | 1 | 399 | 0.0025 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085308 | C | CCCCCTCC others(41): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0162 | 1 | 292 | 0.0034 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3085391 | T | TCCAGCAC others(41): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03195.hp2 |
a0001 | a0001c0004a0001c0017 | a0001c0004t0004a0001c0017t0010 | a0001c0004t0004g0016 a0001c0017t0010g0004 |
2 | 144 | 0.0139 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085512 | T | TCCAGCAC others(41): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02004.hp1 HG02300.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0006a0001c0003t0001a0001c0004t0003others(3): Show | a0001c0001t0006g0090 a0001c0003t0001g0089 a0001c0003t0001g0093 others(4): Show |
7 | 235 | 0.0298 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085557 | C | CTCCCCAG others(41): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18940.hp2 NA18954.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0007t0005others(1): Show | a0001c0001t0002g0121 a0001c0003t0001g0364 a0001c0007t0005g0372 others(1): Show |
4 | 227 | 0.0176 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085557 | C | CTCCCCAG others(41): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(46): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(27): Show | a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0224 others(46): Show |
49 | 272 | 0.1801 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085605 | T | TCCCCAGC others(41): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0256 | 1 | 388 | 0.0026 | 48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PGC_chr6_41731711_41752397 | 41738178 | A | ACATATAT others(41): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 281 | 0.0036 | 48 | c.916 others(63): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
PGC_chr6_41731711_41752397 | 41738190 | G | GCATATAT others(41): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 328 | 0.0030 | 48 | c.916 others(63): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
PGC_chr6_41731711_41752397 | 41738239 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 134 | 0.0075 | 48 | c.916 others(63): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTGGCTT others(41): Show |
3_prime_UTR_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0306 | a0001c0001t0306g0314 | 1 | 172 | 0.0058 | 48 | c.*50 others(57): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 503 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTGGCTT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0095 | a0001c0001t0053g0030 a0001c0001t0095g0029 |
3 | 174 | 0.0172 | 48 | c.*50 others(57): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 503 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGPEP1_chr19_18335598_18374950 | 18364103 | T | TCTTTCTT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp1 HG02622.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0055a0001c0001t0166 | a0001c0001t0011g0171 a0001c0001t0011g0174 a0001c0001t0011g0175 others(2): Show |
5 | 300 | 0.0167 | 48 | c.*53 others(57): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 532 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13003963 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0075 |
2 | 62 | 0.0323 | 48 | c.251 others(67): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635169 | C | CTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 106 | 0.0094 | 48 | c.118 others(67): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59752559 | T | TCCTGCAA others(41): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112 a0001c0001t0002g0215 |
2 | 84 | 0.0238 | 48 | c.359 others(65): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33393724 | A | AAACGATG others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(276): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(31): Show | a0001c0001t0002g0012 a0001c0001t0002g0265 a0001c0001t0002g0270 others(264): Show |
279 | 368 | 0.7582 | 48 | c.-54 others(67): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
PHF14_chr7_10968872_11174618 | 11161668 | C | CTAAATAA others(41): Show |
intron_variant | MODIFIER | HG03453.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 a0001c0002t0001g0030 |
2 | 218 | 0.0092 | 48 | c.277 others(67): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | G | GGTGTGTG others(41): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 144 | 0.0069 | 48 | c.*51 others(59): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68050450 | T | TATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 214 | 0.0047 | 48 | c.-38 others(59): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 3864 | chr15 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18957.hp2 |
a0002a0006 | a0002c0069a0006c0086 | a0002c0069t0001a0006c0086t0001 | a0002c0069t0001g0137 a0006c0086t0001g0018 |
2 | 5 | 0.4000 | 48 | c.719 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0013 | a0013c0083 | a0013c0083t0002 | a0013c0083t0002g0127 | 1 | 4 | 0.2500 | 48 | c.719 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18941.hp1 |
a0002a0016 | a0002c0001a0016c0089 | a0002c0001t0001a0016c0089t0002 | a0002c0001t0001g0007 a0016c0089t0002g0060 |
2 | 5 | 0.4000 | 48 | c.719 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19005.hp1 |
a0001a0011 | a0001c0002a0011c0085 | a0001c0002t0001a0011c0085t0001 | a0001c0002t0001g0155 a0011c0085t0001g0064 |
2 | 5 | 0.4000 | 48 | c.719 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 |
a0007a0017 | a0007c0004a0017c0016 | a0007c0004t0001a0017c0016t0003 | a0007c0004t0001g0120 a0017c0016t0003g0091 |
2 | 5 | 0.4000 | 48 | c.719 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0085 | 1 | 4 | 0.2500 | 48 | c.719 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0146 a0002c0001t0002g0151 |
2 | 5 | 0.4000 | 48 | c.719 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0087 | a0001c0087t0001 | a0001c0087t0001g0037 | 1 | 4 | 0.2500 | 48 | c.719 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886368 | A | ATGTGTGT others(41): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03471.hp1 |
a0001a0005 | a0001c0047a0005c0008 | a0001c0047t0002a0005c0008t0001 | a0001c0047t0002g0144 a0005c0008t0001g0030 |
2 | 72 | 0.0278 | 48 | c.330 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886368 | A | ATGTGTGT others(41): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0094 | 1 | 71 | 0.0141 | 48 | c.330 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 |
a0001a0009 | a0001c0065a0009c0068 | a0001c0065t0002a0009c0068t0001 | a0001c0065t0002g0003 a0009c0068t0001g0153 |
2 | 6 | 0.3333 | 48 | c.330 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0156 | 1 | 5 | 0.2000 | 48 | c.330 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 5 | 0.2000 | 48 | c.330 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar |