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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP1R9A_chr7_94902594_95301400 | 95181506 | G | GAGAATAT others(22): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0021 | 1 | 290 | 0.0035 | 29 | c.175 others(50): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPP2R1A_chr19_52185052_52234518 | 52188899 | G | GGAGAGAT others(22): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0077a0001c0001t0001g0083a0001c0001t0001g0085others(22): Show | 33 | 384 | 0.0859 | 29 | c.-11 others(40): Show |
PPP2R1A | ENSG00000105568.19 | transcript | ENST00000322088.11 | protein_coding | 1152 | chr19 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6416177 | C | CTGGAGTC others(22): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(120): Show | 123 | 298 | 0.4128 | 29 | c.71- others(46): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
PPP2R3A_chr3_135960728_136152894 | 136137534 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 | 1 | 238 | 0.0042 | 29 | c.333 others(48): Show |
PPP2R3A | ENSG00000073711.11 | transcript | ENST00000264977.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP2R3B_chrX_328933_391907 | 340146 | C | CGGGGGGG others(22): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 25 | 0.0400 | 29 | c.135 others(46): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 10/12 | chrX | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 375816 | A | AGGTGACA others(22): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18994.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0011 | a0001c0001t0001g0004a0006c0010t0011g0002 | 2 | 25 | 0.0800 | 29 | c.324 others(48): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 375816 | A | AGGTGACA others(22): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02630.hp2 HG02965.hp1 others(7): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0003c0013others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(7): Show | 10 | 25 | 0.4000 | 29 | c.324 others(48): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101924445 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0019a0001c0003t0002others(1): Show | a0001c0001t0002g0065a0001c0001t0002g0068a0001c0001t0002g0095others(4): Show | 7 | 138 | 0.0507 | 29 | c.160 others(46): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PPP3CA_chr4_101018418_101352526 | 101124725 | G | GAAAGAAA others(22): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 192 | 0.0052 | 29 | c.260 others(48): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
PPP3R1_chr2_68173857_68257532 | 68252585 | G | GGGCGGAG others(22): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(280): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(45): Show | a0001c0001t0001g0085a0001c0001t0001g0094a0001c0001t0001g0100others(276): Show | 283 | 398 | 0.7111 | 29 | c.-45 others(38): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 54 | chr2 | TogoVar | ||||||
PPP3R1_chr2_68173857_68257532 | 68252585 | G | GGGCGGAG others(22): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0240 | 1 | 398 | 0.0025 | 29 | c.-45 others(38): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 54 | chr2 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50375832 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03492.hp2 NA18961.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0031a0001c0003t0001others(1): Show | a0001c0001t0001g0258a0001c0001t0031g0309a0001c0003t0001g0319others(1): Show | 4 | 340 | 0.0118 | 29 | c.-17 others(46): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPWD1_chr5_65558296_65592549 | 65573476 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG02148.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0262 | 2 | 384 | 0.0052 | 29 | c.969 others(46): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13349251 | A | AGAAAGAA others(22): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 256 | 0.0039 | 29 | c.-22 others(40): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 2118 | chr1 | TogoVar | ||||||
PRC1_chr15_90961040_90999535 | 90974369 | G | GGGCTCCC others(22): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03225.hp1 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0001c0001t0022a0002c0003t0004 | a0001c0001t0014g0162a0001c0001t0022g0161a0002c0003t0004g0156 | 3 | 376 | 0.0080 | 29 | c.135 others(46): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 10/14 | chr15 | TogoVar | ||||||
PRC1_chr15_90961040_90999535 | 90974456 | C | CGGCTCCC others(22): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0026a0001c0001t0009g0143a0001c0001t0009g0144 | 3 | 376 | 0.0080 | 29 | c.135 others(46): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 10/14 | chr15 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156792053 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18964.hp1 NA18977.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0033a0003c0003t0001g0034 | 3 | 350 | 0.0086 | 29 | c.117 others(46): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM12_chr9_130659594_130687983 | 130680634 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19066.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027a0001c0002t0002g0099 | 2 | 392 | 0.0051 | 29 | c.683 others(44): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0305 | 1 | 392 | 0.0026 | 29 | c.683 others(44): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3147044 | G | GTGCGCAC others(22): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0101 | 1 | 210 | 0.0048 | 29 | c.38- others(46): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3270678 | A | AGAGGAGG others(22): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00735.hp1 others(105): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0125others(105): Show | 108 | 210 | 0.5143 | 29 | c.438 others(48): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3270718 | G | GTCGGGGA others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0027 | 1 | 210 | 0.0048 | 29 | c.438 others(48): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDX4_chrX_23662493_23691397 | 23665838 | A | AAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0146a0001c0001t0001g0175 | 3 | 349 | 0.0086 | 29 | c.-17 others(40): Show |
PRDX4 | ENSG00000123131.13 | transcript | ENST00000379341.9 | protein_coding | 1654 | chrX | TogoVar | ||||||
PRELID2_chr5_145751344_145840342 | 145821152 | G | GTGTGTGT others(22): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19012.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0021 | a0001c0001t0003g0122a0001c0001t0011g0168a0001c0001t0021g0018 | 3 | 258 | 0.0116 | 29 | c.134 others(46): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
PREP_chr6_105268218_105408082 | 105371500 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0133 | 1 | 212 | 0.0047 | 29 | c.595 others(46): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48661444 | A | AAAAATAT others(22): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0068 | 1 | 268 | 0.0037 | 29 | c.173 others(48): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57542939 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229a0001c0001t0002g0234 | 2 | 300 | 0.0067 | 29 | c.102 others(48): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRIMPOL_chr4_184644738_184699952 | 184651290 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0058 | 1 | 328 | 0.0031 | 29 | c.-13 others(46): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PRIMPOL_chr4_184644738_184699952 | 184676939 | T | TCCCCCTT others(22): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 328 | 0.0031 | 29 | c.845 others(46): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151855062 | T | TCCACACA others(22): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03098.hp1 HG03209.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(3): Show | a0001c0001t0002g0038a0001c0001t0002g0150a0001c0001t0003g0097others(4): Show | 7 | 252 | 0.0278 | 29 | c.114 others(48): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151855320 | C | CCACACAC others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0052a0001c0001t0001g0203others(9): Show | 12 | 252 | 0.0476 | 29 | c.114 others(48): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23875508 | A | ACACACAT others(22): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG02559.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0017a0001c0001t0019a0001c0001t0020others(11): Show | a0001c0001t0017g0070a0001c0001t0019g0146a0001c0001t0020g0084others(12): Show | 15 | 148 | 0.1014 | 29 | c.205 others(48): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTTTCTT others(22): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0008 | a0001c0008t0016 | a0001c0008t0016g0125 | 1 | 148 | 0.0068 | 29 | c.205 others(48): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24096666 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0007 | a0001c0007t0022 | a0001c0007t0022g0089 | 1 | 148 | 0.0068 | 29 | c.821 others(46): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 46097519 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01192.hp2 NA19240.hp2 NA21309.hp2 |
a0001 | a0001c0003a0001c0006a0001c0009 | a0001c0003t0001a0001c0006t0001a0001c0009t0016 | a0001c0003t0001g0036a0001c0006t0001g0048a0001c0009t0016g0094 | 3 | 168 | 0.0179 | 29 | c.159 others(50): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2107849 | G | GGGCAGTG others(22): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03453.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0001a0001c0003t0004 | a0001c0001t0015g0014a0001c0003t0001g0155a0001c0003t0001g0194others(1): Show | 4 | 286 | 0.0140 | 29 | c.335 others(48): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2107859 | G | GAGGGAGC others(22): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 286 | 0.0035 | 29 | c.335 others(48): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKG1_chr10_51069487_52303350 | 51374093 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 64 | 0.0156 | 29 | c.479 others(48): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRKG1_chr10_51069487_52303350 | 51374093 | A | AAAAATAT others(22): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 64 | 0.0156 | 29 | c.479 others(48): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRKN_chr6_161342417_162732766 | 161902552 | A | ATCTATCT others(22): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0019 | 1 | 32 | 0.0313 | 29 | c.734 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162010216 | A | ATATACAT others(22): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 32 | 0.0313 | 29 | c.619 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162011275 | T | TACTATAT others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0012 | 1 | 32 | 0.0313 | 29 | c.619 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162011310 | A | ATTATATA others(22): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 32 | 0.0313 | 29 | c.619 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02818.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0328 | 2 | 364 | 0.0055 | 29 | c.75+ others(44): 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(22): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0002 | 1 | 364 | 0.0028 | 29 | c.75+ others(44): 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(22): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 364 | 0.0028 | 29 | c.75+ others(44): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PRMT8_chr12_3486203_3598973 | 3496215 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | NA18747.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0227 | 2 | 364 | 0.0055 | 29 | c.75+ others(44): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11842931 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0098a0001c0001t0001g0146 | 3 | 348 | 0.0086 | 29 | c.-81 others(46): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133726 | T | TACCTCCT others(22): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01071.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0037a0001c0002t0001g0006 | 2 | 227 | 0.0088 | 29 | c.*22 others(40): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2014 | chr19 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133749 | T | TCTCTCCA others(22): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 227 | 0.0044 | 29 | c.*23 others(40): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2037 | chr19 | TogoVar |