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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRMT1_chr19_49672271_49693447 | 49692130 | T | TGGGGCCT others(33): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 398 | 0.0050 | 40 | c.*38 others(51): Show |
PRMT1 | ENSG00000126457.22 | transcript | ENST00000454376.7 | protein_coding | 3684 | chr19 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 364 | 0.0028 | 40 | c.75+ others(55): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 364 | 0.0028 | 40 | c.75+ others(55): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PROM1_chr4_15963228_16089023 | 16004829 | T | TTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001a0001c0004t0002 | a0001c0001t0002g0035a0001c0001t0002g0302a0001c0004t0001g0129others(2): Show | 5 | 374 | 0.0134 | 40 | c.145 others(59): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 13/27 | chr4 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162539 | C | CCCCGTCC others(33): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 378 | 0.0027 | 40 | c.260 others(55): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133923 | C | CCCCTCTC others(33): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 227 | 0.0044 | 40 | c.*24 others(51): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2211 | chr19 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54134028 | A | ACCTCCCC others(33): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 227 | 0.0044 | 40 | c.*25 others(51): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2316 | chr19 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54134031 | T | TCCCCTCT others(33): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 227 | 0.0044 | 40 | c.*25 others(51): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2319 | chr19 | TogoVar | ||||||
PRPF38B_chr1_108687310_108707928 | 108689608 | T | TAACATTA others(33): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 362 | 0.0028 | 40 | c.-29 others(51): Show |
PRPF38B | ENSG00000134186.12 | transcript | ENST00000370025.9 | protein_coding | 2701 | chr1 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAATA others(33): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0114 | 1 | 316 | 0.0032 | 40 | c.*79 others(51): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36350944 | A | ATATTTAT others(33): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02451.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0039a0001c0001t0004g0182a0001c0001t0004g0183others(14): Show | 17 | 272 | 0.0625 | 40 | c.-12 others(61): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 216 | 0.0046 | 40 | c.-51 others(57): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131430550 | G | GATAGATA others(33): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0033 | a0002c0033t0023 | a0002c0033t0023g0163 | 1 | 216 | 0.0046 | 40 | c.115 others(55): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 2/31 | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171569575 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03017.hp1 HG03834.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0003 | a0001c0001t0001g0036a0001c0001t0001g0184a0003c0002t0003g0177 | 3 | 336 | 0.0089 | 40 | c.665 others(59): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRRG1_chrX_37344364_37462291 | 37376551 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | NA18954.hp2 NA19004.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0008g0172 | 3 | 216 | 0.0139 | 40 | c.-42 others(59): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151697094 | T | TCCTTCCT others(33): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0055 | 1 | 336 | 0.0030 | 40 | c.-32 others(57): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRSS41_chr16_2793470_2810304 | 2795127 | T | TATGTGTA others(33): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0028 | 9 | 426 | 0.0211 | 40 | c.-33 others(51): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3342 | chr16 | TogoVar | ||||||
PRSS41_chr16_2793470_2810304 | 2795137 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | 40 | c.-33 others(51): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3332 | chr16 | TogoVar | ||||||
PRSS41_chr16_2793470_2810304 | 2795141 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0006 | 1 | 426 | 0.0024 | 40 | c.-33 others(51): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3328 | chr16 | TogoVar | ||||||
PRSS55_chr8_10520532_10543819 | 10543463 | C | CCTTCCTT others(33): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA19000.hp1 NA19083.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0026 | 3 | 480 | 0.0063 | 40 | c.*46 others(51): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4645 | chr8 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76855082 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0009 | a0009c0010 | a0009c0010t0005 | a0009c0010t0005g0167 | 1 | 240 | 0.0042 | 40 | c.37- others(53): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
PRXL2B_chr1_2581777_2596468 | 2595805 | T | TGGTCCTG others(33): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0005a0001c0001t0017g0012 | 6 | 413 | 0.0145 | 40 | c.*63 others(51): Show |
PRXL2B | ENSG00000157870.17 | transcript | ENST00000419916.8 | protein_coding | 4338 | chr1 | TogoVar | ||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0359 | 1 | 416 | 0.0024 | 40 | c.870 others(57): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSD2_chr5_139790808_139849466 | 139830565 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03704.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087a0001c0001t0002g0114a0001c0001t0002g0202 | 3 | 276 | 0.0109 | 40 | c.127 others(59): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PSD2_chr5_139790808_139849466 | 139830565 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 276 | 0.0036 | 40 | c.127 others(59): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18759092 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0193 | 1 | 228 | 0.0044 | 40 | c.217 others(59): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73184791 | C | CGCTCCTC others(33): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0376 | 1 | 378 | 0.0027 | 40 | c.481 others(57): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMA3_chr14_58239843_58277004 | 58254333 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01993.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0040others(11): Show | 16 | 332 | 0.0482 | 40 | c.228 others(57): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMA3_chr14_58239843_58277004 | 58254340 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0104a0001c0001t0001g0167a0001c0001t0001g0176others(4): Show | 7 | 332 | 0.0211 | 40 | c.228 others(57): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMA8_chr18_26128869_26198355 | 26155280 | C | CCTCTAAG others(33): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 268 | 0.0037 | 40 | c.355 others(57): Show |
PSMA8 | ENSG00000154611.15 | transcript | ENST00000415576.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PSMD11_chr17_32439510_32488319 | 32459115 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 | 2 | 290 | 0.0069 | 40 | c.318 others(57): Show |
PSMD11 | ENSG00000108671.11 | transcript | ENST00000261712.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTGT others(33): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0026 | 2 | 268 | 0.0075 | 40 | c.571 others(57): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSME4_chr2_53859069_53975993 | 53933375 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0261 | 1 | 384 | 0.0026 | 40 | c.958 others(55): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 8/46 | chr2 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0157 | 1 | 326 | 0.0031 | 40 | c.366 others(57): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PSPH_chr7_56006064_56056444 | 56013084 | C | CACACATA others(33): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084a0001c0001t0002g0100 | 2 | 392 | 0.0051 | 40 | c.571 others(57): Show |
PSPH | ENSG00000146733.14 | transcript | ENST00000275605.8 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112244289 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 342 | 0.0029 | 40 | c.802 others(57): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 7/13 | chr9 | TogoVar | ||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 HG03654.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0042a0001c0003t0003g0222a0001c0003t0003g0230 | 3 | 380 | 0.0079 | 40 | c.-20 others(51): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 459025 | A | AGTGAATG others(33): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 346 | 0.0029 | 40 | c.183 others(57): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459034 | A | AGGACCTG others(33): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02572.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0010 | a0001c0001t0001g0207a0001c0001t0001g0209a0001c0001t0001g0276others(1): Show | 4 | 346 | 0.0116 | 40 | c.183 others(57): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459074 | A | AGGACCTG others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0005a0002c0003t0006others(1): Show | a0001c0001t0006g0189a0001c0001t0006g0190a0002c0003t0005g0018others(13): Show | 17 | 346 | 0.0491 | 40 | c.183 others(57): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459097 | G | GACACTCC others(33): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG03139.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0168a0001c0006t0001g0169a0001c0006t0001g0170 | 3 | 346 | 0.0087 | 40 | c.183 others(57): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459097 | G | GACACTCC others(33): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0026others(6): Show | 13 | 346 | 0.0376 | 40 | c.183 others(55): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459109 | G | GATGTCGG others(33): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 | 1 | 346 | 0.0029 | 40 | c.183 others(57): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459217 | C | CACACTCC others(33): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 346 | 0.0029 | 40 | c.183 others(55): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459217 | C | CACACTCC others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(56): Show | 63 | 346 | 0.1821 | 40 | c.183 others(55): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459223 | C | CCGGTGGA others(33): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157a0001c0001t0004g0158a0001c0001t0004g0162others(1): Show | 4 | 346 | 0.0116 | 40 | c.183 others(55): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459281 | G | GGGTTAGA others(33): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02717.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0214a0001c0001t0001g0215others(1): Show | 4 | 346 | 0.0116 | 40 | c.183 others(55): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTEN_chr10_87858625_87976930 | 87972511 | G | GAAGGAGG others(33): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 322 | 0.0031 | 40 | c.*70 others(51): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 582 | chr10 | TogoVar | ||||||
PTGIS_chr20_49498874_49573137 | 49536478 | C | CTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0106 | 1 | 316 | 0.0032 | 40 | c.673 others(57): Show |
PTGIS | ENSG00000124212.6 | transcript | ENST00000244043.5 | protein_coding | 5/9 | chr20 | TogoVar | ||||||
PTGR1_chr9_111557567_111604647 | 111560974 | T | TATATATA others(33): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 408 | 0.0025 | 40 | c.*21 others(51): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1592 | chr9 | TogoVar |