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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKCE_chr2_45646675_46192990 | 45958817 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0035 a0001c0001t0006g0009 |
2 | 139 | 0.0144 | 19 | c.413 others(38): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
PRKCE_chr2_45646675_46192990 | 46123214 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 | 1 | 22 | 0.0455 | 19 | c.159 others(40): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCI_chr3_170217424_170310977 | 170245949 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0169 | 1 | 182 | 0.0055 | 19 | c.223 others(38): Show |
PRKCI | ENSG00000163558.13 | transcript | ENST00000295797.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRKCI_chr3_170217424_170310977 | 170245951 | T | TTTTTTTG others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0276 | 1 | 340 | 0.0029 | 19 | c.223 others(38): Show |
PRKCI | ENSG00000163558.13 | transcript | ENST00000295797.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2050425 | C | CCCCGCCC others(12): Show |
5_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 1 | 284 | 0.0035 | 19 | c.-19 others(28): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 1/18 | 178 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2098110 | C | CAGGTGAC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0049 others(276): Show |
279 | 284 | 0.9824 | 19 | c.335 others(38): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122423 | G | GTGGTTAG others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01261.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001 | a0001c0001t0013g0151 a0001c0002t0001g0247 |
2 | 146 | 0.0137 | 19 | c.335 others(38): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKD1_chr14_29571479_29932847 | 29734028 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0149 | 1 | 11 | 0.0909 | 19 | c.265 others(36): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKD1_chr14_29571479_29932847 | 29885804 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 | 1 | 72 | 0.0139 | 19 | c.264 others(38): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKD2_chr19_46669316_46722114 | 46680946 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 133 | 0.0075 | 19 | c.207 others(36): Show |
PRKD2 | ENSG00000105287.13 | transcript | ENST00000291281.9 | protein_coding | 15/17 | chr19 | TogoVar | |||||||
PRKD2_chr19_46669316_46722114 | 46680946 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 133 | 0.0075 | 19 | c.207 others(36): Show |
PRKD2 | ENSG00000105287.13 | transcript | ENST00000291281.9 | protein_coding | 15/17 | chr19 | TogoVar | |||||||
PRKD2_chr19_46669316_46722114 | 46680946 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00673.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0111 |
2 | 134 | 0.0149 | 19 | c.207 others(36): Show |
PRKD2 | ENSG00000105287.13 | transcript | ENST00000291281.9 | protein_coding | 15/17 | chr19 | TogoVar | |||||||
PRKD2_chr19_46669316_46722114 | 46680947 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 345 | 0.0029 | 19 | c.207 others(36): Show |
PRKD2 | ENSG00000105287.13 | transcript | ENST00000291281.9 | protein_coding | 15/17 | chr19 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51205127 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02965.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001 | a0001c0001t0003g0015 a0001c0001t0005g0064 a0001c0002t0001g0017 |
3 | 13 | 0.2308 | 19 | c.478 others(38): 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(12): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0046 a0001c0001t0014g0032 |
2 | 39 | 0.0513 | 19 | c.479 others(38): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51374093 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0035 | 1 | 38 | 0.0263 | 19 | c.479 others(38): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | chr10 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51578980 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 31 | 0.0323 | 19 | c.592 others(40): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 52089804 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0032 | 1 | 19 | 0.0526 | 19 | c.935 others(38): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161680775 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0009 | a0004c0009t0010 | a0004c0009t0010g0031 | 1 | 15 | 0.0667 | 19 | c.871 others(40): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161761345 | A | AATGGATG others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG01884.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | 32 | 0.4688 | 19 | c.871 others(38): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161897984 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 13 | 0.0769 | 19 | c.734 others(38): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162235972 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0001 | a0001c0001t0006g0010 a0001c0004t0001g0006 |
2 | 32 | 0.0625 | 19 | c.412 others(38): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162414726 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02602.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0003g0029 others(1): Show |
4 | 11 | 0.3636 | 19 | c.171 others(38): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162690077 | A | ATTAGAAT others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01361.hp2 HG01884.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(20): Show |
23 | 32 | 0.7188 | 19 | c.7+3 others(34): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKRA_chr2_178426414_178456175 | 178430917 | T | TATTTCCT others(12): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 19 | c.*11 others(30): Show |
PRKRA | ENSG00000180228.14 | transcript | ENST00000325748.9 | protein_coding | 496 | chr2 | TogoVar | |||||||
PRKRIP1_chr7_102391363_102431666 | 102431142 | T | TGTGTGTG others(12): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 378 | 0.0026 | 19 | c.*60 others(30): Show |
PRKRIP1 | ENSG00000128563.13 | transcript | ENST00000397912.3 | protein_coding | 4477 | chr7 | TogoVar | |||||||
PRMT2_chr21_46630674_46670124 | 46662002 | A | ATGGGGCA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(43): Show |
89 | 169 | 0.5266 | 19 | c.109 others(34): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46662002 | A | ATGGGGCG others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(248): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(152): Show |
251 | 331 | 0.7583 | 19 | c.109 others(34): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT3_chr11_20382716_20514338 | 20404217 | T | TTTTGTTT others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01981.hp1 HG02300.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 others(7): Show |
10 | 375 | 0.0267 | 19 | c.771 others(36): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 119 | 0.0084 | 19 | c.75+ others(34): 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(12): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0125 |
2 | 120 | 0.0167 | 19 | c.75+ others(34): 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(12): Show |
intron_variant | MODIFIER | NA18939.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0322 |
2 | 120 | 0.0167 | 19 | c.75+ others(34): 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(12): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0323 | 1 | 119 | 0.0084 | 19 | c.75+ others(34): 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(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01123.hp1 HG03704.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 others(3): Show |
6 | 313 | 0.0192 | 19 | c.75+ others(34): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
PROCR_chr20_35167072_35182362 | 35178507 | G | GTTTTGTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 32 | 0.0313 | 19 | c.*16 others(30): Show |
PROCR | ENSG00000101000.6 | transcript | ENST00000216968.5 | protein_coding | 1146 | chr20 | TogoVar | |||||||
PRODH2_chr19_35794988_35817845 | 35814606 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0298 | 1 | 80 | 0.0125 | 19 | c.-18 others(30): Show |
PRODH2 | ENSG00000250799.11 | transcript | ENST00000653904.2 | protein_coding | 1762 | chr19 | TogoVar | |||||||
PRORP_chr14_35117552_35282622 | 35166214 | T | TTCTAGTA others(12): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 | 1 | 312 | 0.0032 | 19 | c.116 others(40): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PROSER3_chr19_35753176_35776166 | 35771989 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01192.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0046 others(1): Show |
10 | 11 | 0.9091 | 19 | c.*34 others(30): Show |
PROSER3 | ENSG00000167595.16 | transcript | ENST00000646935.2 | protein_coding | 824 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133152 | A | AGATGGGG others(12): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 226 | 0.0044 | 19 | c.*17 others(30): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 1440 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133907 | T | TTCCCTCT others(12): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0036 |
2 | 212 | 0.0094 | 19 | c.*24 others(30): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2195 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54134124 | C | CCTCCCCT others(12): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 225 | 0.0044 | 19 | c.*26 others(30): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2412 | chr19 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348459 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 325 | 0.0031 | 19 | c.184 others(36): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | chr1 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348460 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0223 others(7): Show |
10 | 18 | 0.5556 | 19 | c.184 others(36): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF3_chr1_150316533_150358233 | 150348476 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 359 | 0.0028 | 19 | c.184 others(36): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF4B_chr6_4016300_4069983 | 4035284 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0206 | 1 | 14 | 0.0714 | 19 | c.123 others(38): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 217 | 0.0046 | 19 | c.582 others(34): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18940.hp2 NA19054.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0003 | a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0318 others(1): Show |
4 | 220 | 0.0182 | 19 | c.582 others(34): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG02293.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0003 | a0001c0001t0001g0207 a0001c0002t0001g0002 a0001c0002t0001g0214 others(3): Show |
6 | 222 | 0.0270 | 19 | c.582 others(34): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01257.hp2 NA20129.hp1 |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0007a0003c0005t0003 | a0002c0003t0007g0341 a0003c0005t0003g0299 |
2 | 218 | 0.0092 | 19 | c.582 others(34): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPS2_chrX_12786412_12829222 | 12801221 | C | CTGTGTGT others(12): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 5 | 0.2000 | 19 | c.306 others(36): Show |
PRPS2 | ENSG00000101911.13 | transcript | ENST00000380668.10 | protein_coding | 2/6 | chrX | TogoVar |