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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRAMEF9_chr1_13166848_13184459 | 13171898 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00558.hp1 HG00597.hp2 HG01952.hp2 others(32): Show |
a0002 | a0002c0002a0002c0023a0002c0024 | a0002c0002t0002a0002c0002t0007a0002c0002t0015others(3): Show | a0002c0002t0002g0003a0002c0002t0002g0005a0002c0002t0002g0014others(12): Show | 35 | 204 | 0.1716 | 0 | c.-65 others(4): Show |
PRAMEF9 | ENSG00000204505.5 | transcript | ENST00000415919.3 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
PRAMEF9_chr1_13166848_13184459 | 13172233 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00558.hp1 HG00597.hp2 HG01952.hp2 others(32): Show |
a0002 | a0002c0002a0002c0023a0002c0024 | a0002c0002t0002a0002c0002t0007a0002c0002t0015others(3): Show | a0002c0002t0002g0003a0002c0002t0002g0005a0002c0002t0002g0014others(12): Show | 35 | 204 | 0.1716 | 0 | c.-31 others(4): Show |
PRAMEF9 | ENSG00000204505.5 | transcript | ENST00000415919.3 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
PRAMEF9_chr1_13166848_13184459 | 13172410 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(176): Show |
a0001a0002a0004others(23): Show | a0001c0001a0001c0033a0002c0002others(26): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(80): Show | 179 | 204 | 0.8775 | 0 | c.-13 others(4): Show |
PRAMEF9 | ENSG00000204505.5 | transcript | ENST00000415919.3 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
PRAME_chr22_22542701_22564265 | 22559001 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(78): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0028 | a0001c0001t0003a0002c0002t0003a0015c0028t0003 | a0001c0001t0003g0192a0001c0001t0003g0193a0002c0002t0003g0002others(33): Show | 81 | 399 | 0.2030 | 0 | c.-14 others(4): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1/6 | chr22 | TogoVar | ||||||
PRAME_chr22_22542701_22564265 | 22559116 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03579.hp2 | a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0221 | 1 | 399 | 0.0025 | 0 | c.-25 others(4): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1/6 | chr22 | TogoVar | ||||||
PRB4_chr12_11302077_11315436 | 11310421 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18940.hp1 NA18963.hp1 NA18964.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0020 | 3 | 451 | 0.0067 | 0 | c.-23 others(3): Show |
PRB4 | ENSG00000230657.8 | transcript | ENST00000279575.7 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
PRDM14_chr8_70046651_70076252 | 70071249 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00423.hp1 HG00558.hp2 others(113): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0009others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0018others(6): Show | a0001c0002t0003g0003a0001c0002t0003g0004a0001c0002t0003g0013others(76): Show | 116 | 422 | 0.2749 | 0 | c.-12 others(4): Show |
PRDM14 | ENSG00000147596.4 | transcript | ENST00000276594.3 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
PRDM9_chr5_23502609_23533093 | 23507668 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0003others(45): Show | a0001c0001a0001c0006a0001c0020others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(61): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(218): Show | 379 | 424 | 0.8939 | 0 | c.-12 others(4): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
PRDX3_chr10_119162720_119183812 | 119178801 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 426 | 0.0024 | 0 | c.-11 others(3): Show |
PRDX3 | ENSG00000165672.7 | transcript | ENST00000298510.4 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
PRELID3B_chr20_59028145_59047786 | 59042776 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0083 | 1 | 412 | 0.0024 | 0 | c.-46 others(3): Show |
PRELID3B | ENSG00000101166.16 | transcript | ENST00000355937.9 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
PREPL_chr2_44312607_44366494 | 44361486 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02886.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0013 | a0001c0001t0063a0002c0003t0022a0009c0013t0062 | a0001c0001t0063g0293a0002c0003t0022g0295a0002c0003t0022g0296others(2): Show | 5 | 382 | 0.0131 | 0 | c.-15 others(4): Show |
PREPL | ENSG00000138078.16 | transcript | ENST00000409411.6 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
PREP_chr6_105268218_105408082 | 105403063 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0058 | a0002c0002t0058g0181 | 1 | 212 | 0.0047 | 0 | c.-17 others(4): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 1/15 | chr6 | TogoVar | ||||||
PRICKLE1_chr12_42451757_42594746 | 42589665 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0056 | a0001c0003t0056g0300 | 1 | 300 | 0.0033 | 0 | c.-24 others(4): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
PRICKLE2_chr3_64087236_64230466 | 64225426 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(31): Show | a0001c0001t0004g0259a0001c0001t0004g0273a0001c0001t0004g0284others(78): Show | 81 | 340 | 0.2382 | 0 | c.-55 others(4): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
PRICKLE4_chr6_41775782_41792452 | 41780815 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0002 | 1 | 454 | 0.0022 | 0 | c.-19 others(4): Show |
PRICKLE4 | ENSG00000278224.7 | transcript | ENST00000458694.6 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93788430 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0385 | 1 | 397 | 0.0025 | 0 | c.-52 others(3): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
PRKACA_chr19_14086688_14122762 | 14117728 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp1 HG02622.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020a0001c0001t0004g0325a0001c0001t0004g0326others(1): Show | 5 | 358 | 0.0140 | 0 | c.-18 others(4): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151876646 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(39): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0011 | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0004g0211a0001c0001t0004g0212a0001c0001t0004g0214others(39): Show | 42 | 252 | 0.1667 | 0 | c.-26 others(3): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151876800 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0008 | 1 | 252 | 0.0040 | 0 | c.-18 others(4): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
PRKAR1A_chr17_68507430_68538431 | 68512530 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0043 | 1 | 412 | 0.0024 | 0 | c.-25 others(3): Show |
PRKAR1A | ENSG00000108946.17 | transcript | ENST00000589228.6 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
PRKAR2A_chr3_48741586_48852874 | 48847779 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp1 HG00735.hp1 HG01070.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0028 | a0001c0001t0007g0158a0001c0001t0007g0159a0001c0001t0007g0161others(6): Show | 9 | 166 | 0.0542 | 0 | c.-18 others(4): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66302664 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp2 HG03195.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0098a0001c0001t0099a0001c0001t0100 | a0001c0001t0098g0149a0001c0001t0099g0148a0001c0001t0100g0147 | 3 | 178 | 0.0169 | 0 | c.-18 others(4): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 1/17 | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23836151 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02630.hp2 HG02922.hp1 |
a0001 | a0001c0004 | a0001c0004t0086a0001c0004t0087 | a0001c0004t0086g0024a0001c0004t0087g0023 | 2 | 148 | 0.0135 | 0 | c.-25 others(3): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 1/17 | chr16 | TogoVar | ||||||
PRKCD_chr3_53156209_53197717 | 53161238 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0150 | 1 | 322 | 0.0031 | 0 | c.-32 others(4): Show |
PRKCD | ENSG00000163932.16 | transcript | ENST00000330452.8 | protein_coding | 1/19 | chr3 | TogoVar | ||||||
PRKCD_chr3_53156209_53197717 | 53161301 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02698.hp1 HG03017.hp1 HG03239.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0012a0001c0002t0005a0001c0006t0005 | a0001c0001t0012g0211a0001c0001t0012g0212a0001c0002t0005g0215others(4): Show | 9 | 322 | 0.0280 | 0 | c.-25 others(4): Show |
PRKCD | ENSG00000163932.16 | transcript | ENST00000330452.8 | protein_coding | 1/19 | chr3 | TogoVar | ||||||
PRKCD_chr3_53156209_53197717 | 53165139 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0210 | 1 | 322 | 0.0031 | 0 | c.-96 others(3): Show |
PRKCD | ENSG00000163932.16 | transcript | ENST00000330452.8 | protein_coding | 2/19 | chr3 | TogoVar | ||||||
PRKCH_chr14_61316579_61555976 | 61322098 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0080 | 1 | 208 | 0.0048 | 0 | c.-4C others(2): Show |
PRKCH | ENSG00000027075.17 | transcript | ENST00000332981.11 | protein_coding | 1/14 | chr14 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2050574 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00621.hp2 HG00639.hp1 HG01099.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0015a0001c0001t0002g0017others(32): Show | 35 | 286 | 0.1224 | 0 | c.-57 others(3): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
PRKD3_chr2_37245502_37329833 | 37316593 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0043 | 1 | 388 | 0.0026 | 0 | c.-69 others(3): Show |
PRKD3 | ENSG00000115825.11 | transcript | ENST00000234179.8 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
PRKD3_chr2_37245502_37329833 | 37317176 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00280.hp1 HG00741.hp1 others(10): Show |
a0001a0002 | a0001c0009a0002c0005 | a0001c0009t0027a0001c0009t0053a0001c0009t0054others(6): Show | a0001c0009t0027g0376a0001c0009t0027g0378a0001c0009t0053g0377others(10): Show | 13 | 388 | 0.0335 | 0 | c.-65 others(4): Show |
PRKD3 | ENSG00000115825.11 | transcript | ENST00000234179.8 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
PRKD3_chr2_37245502_37329833 | 37324769 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0010 | 1 | 388 | 0.0026 | 0 | c.-74 others(4): Show |
PRKD3 | ENSG00000115825.11 | transcript | ENST00000234179.8 | protein_coding | 1/19 | chr2 | TogoVar | ||||||
PRKRA_chr2_178426414_178456175 | 178451044 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00544.hp1 HG02015.hp2 HG02040.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025a0001c0001t0003g0153 | 4 | 406 | 0.0099 | 0 | c.-14 others(3): Show |
PRKRA | ENSG00000180228.14 | transcript | ENST00000325748.9 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3713482 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0007a0001c0001t0015a0001c0001t0016others(44): Show | a0001c0001t0007g0150a0001c0001t0007g0157a0001c0001t0015g0131others(60): Show | 63 | 227 | 0.2775 | 0 | c.-22 others(4): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 1/9 | chrX | TogoVar | ||||||
PRLHR_chr10_118584997_118600648 | 118595604 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0056 | 1 | 444 | 0.0023 | 0 | c.-95 others(3): Show |
PRLHR | ENSG00000119973.6 | transcript | ENST00000239032.4 | protein_coding | 1/2 | chr10 | TogoVar | ||||||
PRLR_chr5_35050702_35235487 | 35230278 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01081.hp1 HG01192.hp1 HG01243.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0022a0001c0001t0023a0001c0001t0054others(6): Show | a0001c0001t0022g0202a0001c0001t0022g0206a0001c0001t0023g0210others(8): Show | 11 | 214 | 0.0514 | 0 | c.-11 others(4): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
PRL_chr6_22282246_22302036 | 22296987 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18964.hp2 NA18979.hp1 NA18992.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0105a0001c0001t0002g0106others(2): Show | 7 | 446 | 0.0157 | 0 | c.-5C others(2): Show |
PRL | ENSG00000172179.13 | transcript | ENST00000306482.2 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46635759 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0004 | 1 | 426 | 0.0024 | 0 | c.-17 others(4): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 1/12 | chr21 | TogoVar | ||||||
PRMT7_chr16_68306019_68363584 | 68311042 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(150): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(145): Show | 153 | 284 | 0.5387 | 0 | c.-27 others(4): Show |
PRMT7 | ENSG00000132600.18 | transcript | ENST00000441236.3 | protein_coding | 1/19 | chr16 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3491220 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0002 | 1 | 364 | 0.0028 | 0 | c.-40 others(4): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
PRNP_chr20_4681456_4706588 | 4686505 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02922.hp2 NA20129.hp1 |
a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0031 | 2 | 332 | 0.0060 | 0 | c.-18 others(3): Show |
PRNP | ENSG00000171867.18 | transcript | ENST00000379440.9 | protein_coding | 1/2 | chr20 | TogoVar | ||||||
PROC_chr2_127413427_127434242 | 127418481 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0054 | 1 | 418 | 0.0024 | 0 | c.-33 others(3): Show |
PROC | ENSG00000115718.18 | transcript | ENST00000234071.8 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
PROK2_chr3_71766655_71790148 | 71785072 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0142 | 1 | 438 | 0.0023 | 0 | c.-20 others(3): Show |
PROK2 | ENSG00000163421.9 | transcript | ENST00000295619.4 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
PROKR2_chr20_5294218_5321954 | 5316794 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0144 | 1 | 424 | 0.0024 | 0 | c.-30 others(4): Show |
PROKR2 | ENSG00000101292.8 | transcript | ENST00000678254.1 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11852011 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03209.hp2 | a0003 | a0003c0004 | a0003c0004t0028 | a0003c0004t0028g0234 | 1 | 348 | 0.0029 | 0 | c.-67 others(3): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
PRPF38B_chr1_108687310_108707928 | 108692349 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0003 | 1 | 362 | 0.0028 | 0 | c.-24 others(4): Show |
PRPF38B | ENSG00000134186.12 | transcript | ENST00000370025.9 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 63981167 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02451.hp2 HG02622.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0210a0001c0001t0004g0211a0001c0001t0004g0212others(3): Show | 6 | 294 | 0.0204 | 0 | c.-79 others(3): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 63981202 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02738.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052a0001c0001t0006g0219 | 2 | 294 | 0.0068 | 0 | c.-44 others(3): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31750109 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00738.hp2 HG02683.hp1 HG03688.hp1 |
a0008 | a0008c0007 | a0008c0007t0017 | a0008c0007t0017g0310a0008c0007t0017g0311a0008c0007t0017g0312 | 3 | 316 | 0.0095 | 0 | c.-16 others(4): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31750120 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0040 | a0003c0003t0040g0313 | 1 | 316 | 0.0032 | 0 | c.-17 others(4): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31750121 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0040 | a0003c0003t0040g0313 | 1 | 316 | 0.0032 | 0 | c.-18 others(4): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 1/9 | chr22 | TogoVar |