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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKX_chrX_3599340_3718649 | 3632463 | C | CCCTGTCT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(85): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0050 a0001c0001t0002g0082 a0001c0001t0002g0085 others(85): Show |
88 | 227 | 0.3877 | 15 | c.720 others(32): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3637081 | G | GGGAGGGA others(8): Show |
intron_variant | MODIFIER | NA18998.hp1 NA19064.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0073a0001c0001t0097 | a0001c0001t0014g0020 a0001c0001t0073g0029 a0001c0001t0097g0148 |
3 | 227 | 0.0132 | 15 | c.719 others(32): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3649589 | T | TAGGGGAG others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0045 | 1 | 227 | 0.0044 | 15 | c.599 others(32): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3700749 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0177 | 1 | 227 | 0.0044 | 15 | c.166 others(34): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 1/8 | chrX | TogoVar | |||||||
PRLR_chr5_35050702_35235487 | 35102497 | A | ACTCCTCT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01993.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0132 a0001c0001t0002g0159 others(3): Show |
6 | 214 | 0.0280 | 15 | c.-43 others(34): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
PRLR_chr5_35050702_35235487 | 35102502 | T | TCTCCACT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0018 | a0001c0001t0002g0008 a0001c0001t0013g0019 a0001c0001t0013g0026 others(2): Show |
5 | 214 | 0.0234 | 15 | c.-43 others(34): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
PRMT2_chr21_46630674_46670124 | 46661970 | G | GTGGGGGG others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01081.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0018 a0001c0002t0004g0064 a0001c0002t0004g0065 others(2): Show |
6 | 426 | 0.0141 | 15 | c.109 others(30): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496215 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03195.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0138 others(1): Show |
4 | 364 | 0.0110 | 15 | c.75+ others(30): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
PRMT9_chr4_147632785_147689163 | 147685238 | C | CTTTCTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 222 | 0.0045 | 15 | c.-12 others(26): Show |
PRMT9 | ENSG00000164169.13 | transcript | ENST00000322396.7 | protein_coding | 1076 | chr4 | TogoVar | |||||||
PRND_chr20_4716909_4733460 | 4727793 | C | CTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0009a0001c0001t0011a0001c0001t0012others(35): Show | a0001c0001t0009g0003 a0001c0001t0009g0025 a0001c0001t0011g0003 others(41): Show |
56 | 480 | 0.1167 | 15 | c.*27 others(26): Show |
PRND | ENSG00000171864.5 | transcript | ENST00000305817.3 | protein_coding | 2/2 | 2722 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PROCA1_chr17_28698197_28716888 | 28708731 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03139.hp2 NA18978.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0179 a0001c0001t0001g0181 others(1): Show |
6 | 320 | 0.0188 | 15 | c.92- others(30): Show |
PROCA1 | ENSG00000167525.16 | transcript | ENST00000682792.1 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
PROCA1_chr17_28698197_28716888 | 28715418 | C | CCTGAGCC others(8): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 320 | 0.0031 | 15 | c.-37 others(26): Show |
PROCA1 | ENSG00000167525.16 | transcript | ENST00000682792.1 | protein_coding | 3531 | chr17 | TogoVar | |||||||
PROCR_chr20_35167072_35182362 | 35178507 | G | GTTTTGTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(5): Show |
13 | 392 | 0.0332 | 15 | c.*16 others(26): Show |
PROCR | ENSG00000101000.6 | transcript | ENST00000216968.5 | protein_coding | 1146 | chr20 | TogoVar | |||||||
PROC_chr2_127413427_127434242 | 127414994 | C | CCGTCAGC others(8): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 418 | 0.0024 | 15 | c.-35 others(26): Show |
PROC | ENSG00000115718.18 | transcript | ENST00000234071.8 | protein_coding | 3432 | chr2 | TogoVar | |||||||
PRODH2_chr19_35794988_35817845 | 35814606 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0074 | 1 | 428 | 0.0023 | 15 | c.-18 others(26): Show |
PRODH2 | ENSG00000250799.11 | transcript | ENST00000653904.2 | protein_coding | 1762 | chr19 | TogoVar | |||||||
PRODH_chr22_18907781_18941293 | 18936335 | T | TCCCGCCC others(8): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01358.hp2 HG01433.hp2 others(3): Show |
a0001a0003a0013others(1): Show | a0001c0001a0003c0003a0013c0019others(1): Show | a0001c0001t0001a0003c0003t0001a0013c0019t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0003c0003t0001g0045 others(2): Show |
6 | 409 | 0.0147 | 15 | c.-63 others(22): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 43 | chr22 | TogoVar | |||||||
PROK2_chr3_71766655_71790148 | 71790066 | T | TTATTATA others(8): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(7): Show |
19 | 438 | 0.0434 | 15 | c.-50 others(26): Show |
PROK2 | ENSG00000163421.9 | transcript | ENST00000295619.4 | protein_coding | 4919 | chr3 | TogoVar | |||||||
PROKR2_chr20_5294218_5321954 | 5298439 | C | CGCGCGCG others(8): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0071 | 1 | 424 | 0.0024 | 15 | c.*36 others(26): Show |
PROKR2 | ENSG00000101292.8 | transcript | ENST00000678254.1 | protein_coding | 778 | chr20 | TogoVar | |||||||
PROM1_chr4_15963228_16089023 | 16047575 | T | TGTTACAA others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG02145.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0190 a0001c0001t0001g0335 others(18): Show |
21 | 374 | 0.0562 | 15 | c.221 others(32): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 2/27 | chr4 | TogoVar | |||||||
PROSER2_chr10_11818356_11877277 | 11842931 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18956.hp1 |
a0001 | a0001c0001a0001c0025 | a0001c0001t0001a0001c0025t0001 | a0001c0001t0001g0322 a0001c0025t0001g0298 |
2 | 348 | 0.0058 | 15 | c.-81 others(32): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11859008 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 348 | 0.0029 | 15 | c.138 others(32): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROSER3_chr19_35753176_35776166 | 35771985 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 424 | 0.0024 | 15 | c.*34 others(26): Show |
PROSER3 | ENSG00000167595.16 | transcript | ENST00000646935.2 | protein_coding | 820 | chr19 | TogoVar | |||||||
PROSER3_chr19_35753176_35776166 | 35771989 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0005 | a0005c0006 | a0005c0006t0010 | a0005c0006t0010g0014 | 1 | 424 | 0.0024 | 15 | c.*34 others(26): Show |
PROSER3 | ENSG00000167595.16 | transcript | ENST00000646935.2 | protein_coding | 824 | chr19 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154165 | A | AGGAGGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | 15 | c.-44 others(26): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4482 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154274 | G | GGCGGGGC others(8): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 378 | 0.0027 | 15 | c.-43 others(26): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4373 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154357 | G | GGGGCGCG others(8): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 378 | 0.0027 | 15 | c.-43 others(26): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4290 | chr13 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54126106 | C | CTGGCCAC others(8): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 227 | 0.0044 | 15 | c.856 others(30): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133779 | C | CTCTCCAC others(8): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0028 | 1 | 227 | 0.0044 | 15 | c.*23 others(26): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2067 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133869 | T | TCTCCACC others(8): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 227 | 0.0044 | 15 | c.*24 others(26): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2157 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133974 | T | TCCCTCTC others(8): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0089 | 1 | 227 | 0.0044 | 15 | c.*25 others(26): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2262 | chr19 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150323173 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 362 | 0.0028 | 15 | c.-49 others(32): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF3_chr1_150316533_150358233 | 150348460 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01081.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0003c0008t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(28): Show |
31 | 362 | 0.0856 | 15 | c.184 others(32): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF3_chr1_150316533_150358233 | 150357508 | G | GTGTTGTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 a0001c0001t0001g0343 |
2 | 362 | 0.0055 | 15 | c.*45 others(26): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 4276 | chr1 | TogoVar | |||||||
PRPF4B_chr6_4016300_4069983 | 4029012 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02965.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0180 a0002c0002t0002g0184 a0002c0002t0002g0185 |
3 | 368 | 0.0082 | 15 | c.42- others(30): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRPF4B_chr6_4016300_4069983 | 4035284 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02273.hp1 HG04184.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0168 a0002c0002t0002g0173 |
2 | 368 | 0.0054 | 15 | c.123 others(34): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRPF4B_chr6_4016300_4069983 | 4053903 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02055.hp1 others(17): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(16): Show |
20 | 368 | 0.0544 | 15 | c.246 others(34): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRPF8_chr17_1645629_1689867 | 1682656 | A | ACTAGACC others(8): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0033 | 1 | 291 | 0.0034 | 15 | c.270 others(30): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 3/42 | chr17 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42701682 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01517.hp2 NA18963.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0006a0001c0002t0024a0002c0004t0005 | a0001c0002t0006g0320 a0001c0002t0024g0310 a0002c0004t0005g0018 others(1): Show |
4 | 392 | 0.0102 | 15 | c.828 others(32): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0308 | 1 | 392 | 0.0026 | 15 | c.582 others(30): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03579.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0014 | a0001c0002t0001g0279 a0001c0002t0001g0351 a0001c0002t0014g0364 |
3 | 392 | 0.0077 | 15 | c.582 others(30): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18990.hp2 NA19007.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0003a0002c0003t0010 | a0001c0002t0001g0236 a0002c0003t0003g0221 a0002c0003t0010g0251 |
3 | 392 | 0.0077 | 15 | c.582 others(30): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0278 | 1 | 392 | 0.0026 | 15 | c.582 others(30): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH_chr12_49290147_49303686 | 49299530 | A | AAATAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0007 | 1 | 382 | 0.0026 | 15 | c.*11 others(26): Show |
PRPH | ENSG00000135406.15 | transcript | ENST00000257860.9 | protein_coding | 845 | chr12 | TogoVar | |||||||
PRPS2_chrX_12786412_12829222 | 12826648 | G | GAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01255.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0148 a0001c0001t0001g0193 a0001c0001t0001g0223 others(4): Show |
7 | 334 | 0.0210 | 15 | c.*38 others(26): Show |
PRPS2 | ENSG00000101911.13 | transcript | ENST00000380668.10 | protein_coding | 2427 | chrX | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76347484 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0208 | 1 | 366 | 0.0027 | 15 | c.223 others(32): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
PRPSAP2_chr17_18853131_18936287 | 18869836 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0166 | 1 | 392 | 0.0026 | 15 | c.172 others(32): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
PRPSAP2_chr17_18853131_18936287 | 18897450 | G | GTGTTGTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00735.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0057 others(10): Show |
13 | 392 | 0.0332 | 15 | c.584 others(32): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRPSAP2_chr17_18853131_18936287 | 18929358 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0004 | a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0002t0004g0127 |
3 | 392 | 0.0077 | 15 | c.951 others(30): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRR11_chr17_59150746_59211709 | 59168143 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0127 a0001c0001t0014g0125 |
2 | 290 | 0.0069 | 15 | c.-5- others(30): Show |
PRR11 | ENSG00000068489.13 | transcript | ENST00000262293.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRR13_chr12_53436734_53451638 | 53445624 | A | ATCTAGAT others(8): Show |
intron_variant | MODIFIER | NA18976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 388 | 0.0026 | 15 | c.403 others(30): Show |
PRR13 | ENSG00000205352.11 | transcript | ENST00000429243.7 | protein_coding | 3/3 | chr12 | TogoVar |