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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 others(21): Show |
33 | 382 | 0.0864 | 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(31): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(120): Show |
123 | 296 | 0.4155 | 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 | a0003c0003t0001g0013 | 1 | 47 | 0.0213 | 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 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0020 | 1 | 23 | 0.0435 | 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 |
a0001a0002 | a0001c0008a0002c0001 | a0001c0008t0001a0002c0001t0002 | a0001c0008t0001g0002 a0002c0001t0002g0001 |
2 | 15 | 0.1333 | 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(6): Show |
a0002a0004a0005 | a0002c0001a0002c0006a0004c0010others(1): Show | a0002c0001t0002a0002c0001t0004a0002c0001t0006others(3): Show | a0002c0001t0002g0016 a0002c0001t0002g0017 a0002c0001t0002g0020 others(6): Show |
9 | 22 | 0.4091 | 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 | a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0094 others(4): Show |
7 | 27 | 0.2593 | 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 | a0001c0001t0002g0062 | 1 | 140 | 0.0071 | 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 | a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0097 others(269): Show |
283 | 395 | 0.7165 | 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 | a0001c0002t0034g0237 | 1 | 113 | 0.0088 | 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 | a0001c0001t0001a0001c0001t0026a0001c0003t0001others(1): Show | a0001c0001t0001g0257 a0001c0001t0026g0314 a0001c0003t0001g0319 others(1): Show |
4 | 111 | 0.0360 | 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 | a0001c0001t0001g0069 a0001c0001t0001g0217 |
2 | 267 | 0.0075 | 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 | 125 | 0.0080 | 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 | a0001c0001t0014g0162 a0001c0001t0022g0161 a0002c0003t0004g0155 |
3 | 356 | 0.0084 | 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 | a0001c0001t0005g0031 a0001c0001t0009g0143 a0001c0001t0009g0144 |
3 | 370 | 0.0081 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0044 a0003c0003t0001g0045 |
3 | 33 | 0.0909 | 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 | a0001c0002t0002g0045 a0001c0002t0002g0104 |
2 | 228 | 0.0088 | 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 | a0002c0001t0004g0255 | 1 | 122 | 0.0082 | 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 | 208 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0125 others(105): Show |
108 | 208 | 0.5192 | 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 | 208 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0108 |
3 | 55 | 0.0545 | 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 | a0001c0001t0003g0122 a0001c0001t0011g0168 a0001c0001t0021g0018 |
3 | 83 | 0.0361 | 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 | a0001c0006t0001g0132 | 1 | 81 | 0.0123 | 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 | a0001c0005t0004g0066 | 1 | 130 | 0.0077 | 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 | a0001c0001t0002g0229 a0001c0001t0002g0234 |
2 | 70 | 0.0286 | 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 | a0003c0003t0001g0062 | 1 | 318 | 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 | a0001c0001t0001g0033 | 1 | 264 | 0.0038 | 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 | a0001c0001t0002g0021 a0001c0001t0002g0150 a0001c0001t0003g0096 others(4): Show |
7 | 96 | 0.0729 | 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 | a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0203 others(9): Show |
12 | 245 | 0.0490 | 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 | a0001c0001t0017g0071 a0001c0001t0019g0144 a0001c0001t0020g0080 others(12): Show |
15 | 146 | 0.1027 | 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 | a0001c0008t0016g0118 | 1 | 37 | 0.0270 | 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 | 76 | 0.0132 | 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 | a0001c0003t0001g0049 a0001c0006t0001g0046 a0001c0009t0016g0122 |
3 | 94 | 0.0319 | 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 | a0001c0001t0015g0014 a0001c0003t0001g0155 a0001c0003t0001g0194 others(1): Show |
4 | 284 | 0.0141 | 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 | 284 | 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 | 38 | 0.0263 | 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 | a0001c0001t0008g0003 | 1 | 38 | 0.0263 | 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 | a0002c0002t0003 | a0002c0002t0003g0019 | 1 | 25 | 0.0400 | 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 | a0001c0001t0013 | a0001c0001t0013g0012 | 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 | a0001c0001t0001 | a0001c0001t0001g0023 | 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 | a0001c0001t0001g0102 a0001c0001t0001g0286 |
2 | 120 | 0.0167 | 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 | a0001c0001t0014g0003 | 1 | 119 | 0.0084 | 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 | a0001c0001t0001g0064 | 1 | 119 | 0.0084 | 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 | a0001c0001t0001g0276 a0001c0001t0001g0279 |
2 | 309 | 0.0065 | 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 | a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0146 |
3 | 8 | 0.3750 | 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 | a0001c0001t0001g0038 a0001c0002t0001g0006 |
2 | 208 | 0.0096 | 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 | a0001c0001t0001g0042 | 1 | 216 | 0.0046 | 29 | c.*23 others(40): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2037 | chr19 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348460 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0227 | 1 | 9 | 0.1111 | 29 | c.184 others(46): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |