regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 192 | 0.0052 | 23 | c.157 others(44): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0049 | 1 | 192 | 0.0052 | 23 | c.157 others(44): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62849828 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 192 | 0.0052 | 23 | c.190 others(44): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849832 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 192 | 0.0052 | 23 | c.190 others(44): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71670695 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0100 | 1 | 324 | 0.0031 | 23 | c.153 others(42): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 10/18 | chr16 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49232385 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035a0001c0001t0003g0044 | 2 | 420 | 0.0048 | 23 | c.-19 others(34): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1599 | chr17 | TogoVar | ||||||
PHOX2B_chr4_41739082_41753725 | 41742625 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 3 | 382 | 0.0079 | 23 | c.*31 others(34): Show |
PHOX2B | ENSG00000109132.7 | transcript | ENST00000226382.4 | protein_coding | 1456 | chr4 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585280 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0013 | 1 | 279 | 0.0036 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585290 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02300.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0001 | a0001c0001t0001g0232a0001c0001t0001g0264a0001c0023t0001g0231 | 3 | 279 | 0.0108 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585395 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0213 | 2 | 279 | 0.0072 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585418 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(29): Show |
a0001a0005a0023 | a0001c0001a0001c0033a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0033t0014others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0060others(29): Show | 32 | 279 | 0.1147 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585464 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01433.hp2 HG01884.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0084a0003c0004t0003g0175a0003c0004t0003g0216others(1): Show | 4 | 279 | 0.0143 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585464 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18984.hp1 |
a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0112a0001c0018t0001g0113 | 2 | 279 | 0.0072 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585474 | T | ATGAGGTA others(16): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG02622.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0025a0003c0004t0003g0083a0003c0004t0003g0174others(1): Show | 4 | 279 | 0.0143 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585497 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02717.hp2 NA19087.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0003 | a0001c0001t0001g0162a0003c0004t0003g0222a0003c0004t0003g0269 | 3 | 279 | 0.0108 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585520 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(30): Show |
a0001a0023 | a0001c0001a0001c0033a0023c0036 | a0001c0001t0001a0001c0001t0007a0001c0033t0014others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0060a0001c0001t0001g0061others(30): Show | 33 | 279 | 0.1183 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585543 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 279 | 0.0036 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585566 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0208others(5): Show | 8 | 279 | 0.0287 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585589 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02602.hp1 |
a0005a0024 | a0005c0007a0024c0037 | a0005c0007t0001a0024c0037t0001 | a0005c0007t0001g0268a0024c0037t0001g0125 | 2 | 279 | 0.0072 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585612 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0017 | a0017c0028 | a0017c0028t0001 | a0017c0028t0001g0129 | 1 | 279 | 0.0036 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 279 | 0.0036 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHYH_chr10_13272799_13305064 | 13289218 | C | CGGAGTCT others(16): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0368 | 1 | 438 | 0.0023 | 23 | c.497 others(38): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG01978.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0181a0001c0001t0001g0233others(9): Show | 13 | 440 | 0.0296 | 23 | c.*54 others(34): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20780775 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0035 | a0001c0035t0003 | a0001c0035t0003g0314 | 1 | 334 | 0.0030 | 23 | c.232 others(44): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68179564 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0200 | 1 | 260 | 0.0039 | 23 | c.148 others(42): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG03041.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0139a0001c0001t0165a0001c0001t0231 | a0001c0001t0139g0298a0001c0001t0165g0051a0001c0001t0231g0088 | 3 | 322 | 0.0093 | 23 | c.*50 others(34): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0191 | a0001c0001t0191g0041 | 1 | 322 | 0.0031 | 23 | c.*50 others(34): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46832892 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0247 | 1 | 322 | 0.0031 | 23 | c.120 others(42): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 9/13 | chr18 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72904433 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18977.hp1 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0249a0001c0001t0001g0253a0001c0001t0001g0279others(1): Show | 4 | 346 | 0.0116 | 23 | c.148 others(42): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 73001582 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 346 | 0.0029 | 23 | c.222 others(42): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PID1_chr2_229018973_229276287 | 229184491 | A | ATATCCCG others(16): Show |
intron_variant | MODIFIER | NA20300.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158a0001c0001t0003g0160 | 2 | 256 | 0.0078 | 23 | c.31- others(40): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88754267 | T | TGGGCTGG others(16): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0227 | 1 | 282 | 0.0036 | 23 | c.65- others(38): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 1/50 | chr16 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 11050792 | C | CTATATAT others(16): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 NA20129.hp1 |
a0005a0010a0017 | a0005c0056a0010c0014a0017c0016 | a0005c0056t0001a0010c0014t0002a0017c0016t0003 | a0005c0056t0001g0061a0010c0014t0002g0124a0017c0016t0003g0090 | 3 | 158 | 0.0190 | 23 | c.160 others(42): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 2/55 | chr18 | TogoVar | ||||||
PIGK_chr1_77083989_77224430 | 77171436 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0200 | 1 | 366 | 0.0027 | 23 | c.240 others(40): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16216786 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0001g0108others(3): Show | 6 | 246 | 0.0244 | 23 | c.-44 others(32): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 423 | chr17 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16246672 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126a0001c0001t0003g0140 | 2 | 246 | 0.0081 | 23 | c.335 others(42): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGL_chr17_16212210_16331411 | 16298792 | C | CTGAGGTG others(16): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 246 | 0.0041 | 23 | c.336 others(40): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGL_chr17_16212210_16331411 | 16311467 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01516.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0199a0001c0001t0001g0240a0001c0001t0002g0070others(6): Show | 9 | 246 | 0.0366 | 23 | c.427 others(40): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGN_chr18_62036164_62192056 | 62062882 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0013 | a0001c0013t0105 | a0001c0013t0105g0074 | 1 | 342 | 0.0029 | 23 | c.267 others(42): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | ||||||
PIGZ_chr3_196941356_196973833 | 196960737 | G | GAGAAGAA others(16): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 424 | 0.0024 | 23 | c.-1+ others(38): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 384 | 0.0026 | 23 | c.*18 others(32): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIK3AP1_chr10_96588315_96725514 | 96711739 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 256 | 0.0039 | 23 | c.14- others(38): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
PIK3CD_chr1_9646731_9734114 | 9702500 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0066 | 1 | 318 | 0.0031 | 23 | c.-32 others(40): Show |
PIK3CD | ENSG00000171608.18 | transcript | ENST00000377346.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PIK3R2_chr19_18148163_18175532 | 18159144 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02148.hp1 NA19083.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073a0002c0003t0001g0074a0002c0003t0001g0119 | 3 | 334 | 0.0090 | 23 | c.323 others(40): Show |
PIK3R2 | ENSG00000105647.19 | transcript | ENST00000222254.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PIK3R5_chr17_8873916_8970707 | 8925049 | A | AGATAGAT others(16): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104a0001c0002t0001g0105 | 2 | 298 | 0.0067 | 23 | c.-13 others(42): Show |
PIK3R5 | ENSG00000141506.15 | transcript | ENST00000447110.6 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
PILRA_chr7_100368487_100405096 | 100396733 | G | GTATGAAC others(16): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 364 | 0.0028 | 23 | c.674 others(40): Show |
PILRA | ENSG00000085514.16 | transcript | ENST00000198536.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
PIM1_chr6_37165152_37180428 | 37179353 | T | TATATAAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 414 | 0.0024 | 23 | c.*52 others(34): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3926 | chr6 | TogoVar | ||||||
PINK1_chr1_20628458_20656511 | 20634568 | T | TTAGGGTT others(16): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0019 | a0019c0011 | a0019c0011t0018 | a0019c0011t0018g0201 | 1 | 458 | 0.0022 | 23 | c.387 others(38): Show |
PINK1 | ENSG00000158828.8 | transcript | ENST00000321556.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PIP4K2A_chr10_22529854_22719578 | 22542312 | T | TGGCTGCA others(16): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023a0001c0002t0001g0024 | 2 | 206 | 0.0097 | 23 | c.793 others(38): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22542312 | T | TGGCTGGA others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00609.hp1 others(129): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(40): Show | a0001c0001t0001g0097a0001c0001t0001g0104a0001c0001t0001g0108others(129): Show | 132 | 206 | 0.6408 | 23 | c.793 others(38): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 7/9 | chr10 | TogoVar |