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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKCB_chr16_23830983_24225611 | 23911128 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02486.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0009a0001c0005t0004 | a0001c0004t0009g0011a0001c0005t0004g0036 | 2 | 148 | 0.0135 | 19 | c.205 others(38): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24020976 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0007 | a0001c0007t0022 | a0001c0007t0022g0089 | 1 | 148 | 0.0068 | 19 | c.289 others(38): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24096664 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0076 | 1 | 148 | 0.0068 | 19 | c.821 others(36): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24096666 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0065 | 1 | 148 | 0.0068 | 19 | c.821 others(36): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | chr16 | TogoVar | ||||||
PRKCD_chr3_53156209_53197717 | 53156244 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0001a0001c0005t0003a0001c0014t0013others(1): Show | a0001c0001t0001g0183a0001c0005t0003g0008a0001c0014t0013g0040others(1): Show | 6 | 322 | 0.0186 | 19 | c.-53 others(30): Show |
PRKCD | ENSG00000163932.16 | transcript | ENST00000330452.8 | protein_coding | 4964 | chr3 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45941065 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 168 | 0.0060 | 19 | c.413 others(38): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 45958817 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0039a0001c0001t0006g0012 | 2 | 168 | 0.0119 | 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 | a0001c0001t0006g0045 | 1 | 168 | 0.0060 | 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 | a0001c0001t0037g0170 | 1 | 342 | 0.0029 | 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 | a0001c0001t0003g0277 | 1 | 342 | 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 | 286 | 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(277): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0048a0001c0001t0001g0049others(277): Show | 280 | 286 | 0.9790 | 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 | a0001c0001t0013g0151a0001c0002t0001g0247 | 2 | 286 | 0.0070 | 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 | a0001c0001t0004g0150 | 1 | 156 | 0.0064 | 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 | 156 | 0.0064 | 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 | a0001c0001t0001g0142 | 1 | 378 | 0.0027 | 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 | a0001c0001t0001g0156 | 1 | 378 | 0.0027 | 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 | a0001c0001t0001g0028a0001c0001t0001g0113 | 2 | 378 | 0.0053 | 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 | a0001c0001t0001g0123 | 1 | 378 | 0.0027 | 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 | a0001c0001t0003g0015a0001c0001t0005g0064a0001c0002t0001g0017 | 3 | 64 | 0.0469 | 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 | a0001c0001t0001g0046a0001c0001t0014g0032 | 2 | 64 | 0.0313 | 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 | 64 | 0.0156 | 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 | 64 | 0.0156 | 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 | 64 | 0.0156 | 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 | a0004c0009t0011 | a0004c0009t0011g0031 | 1 | 32 | 0.0313 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0030others(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 | 32 | 0.0313 | 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 | a0001c0001t0008a0001c0004t0001 | a0001c0001t0008g0010a0001c0004t0001g0006 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0028a0001c0001t0002g0023a0001c0001t0004g0029others(1): Show | 4 | 32 | 0.1250 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0017a0001c0001t0002g0005a0001c0001t0002g0007others(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 | 406 | 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 | a0001c0001t0003g0165 | 1 | 382 | 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 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0011others(43): Show | 89 | 426 | 0.2089 | 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(249): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0020others(153): Show | 252 | 426 | 0.5916 | 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 | a0001c0001t0002g0012a0001c0001t0002g0038a0001c0001t0002g0039others(7): Show | 10 | 380 | 0.0263 | 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 | a0001c0001t0001g0203 | 1 | 364 | 0.0028 | 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 | a0001c0001t0001g0023a0001c0001t0001g0205 | 2 | 364 | 0.0055 | 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 | a0001c0001t0001g0240a0001c0001t0001g0248 | 2 | 364 | 0.0055 | 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 | a0001c0001t0007g0313 | 1 | 364 | 0.0028 | 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 | a0001c0001t0001g0082a0001c0001t0001g0137a0001c0001t0001g0231others(3): Show | 6 | 364 | 0.0165 | 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 | 392 | 0.0026 | 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 | a0002c0011t0002g0299 | 1 | 428 | 0.0023 | 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 | a0001c0002t0001g0250 | 1 | 314 | 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 | a0001c0001t0004g0001a0001c0001t0004g0010a0001c0001t0004g0046others(1): Show | 10 | 424 | 0.0236 | 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 | 227 | 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 | a0001c0001t0001g0004a0001c0001t0001g0035 | 2 | 227 | 0.0088 | 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 | a0001c0001t0001g0115 | 1 | 227 | 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 | 362 | 0.0028 | 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 | a0001c0001t0001g0209a0001c0001t0001g0212a0001c0001t0001g0223others(7): Show | 10 | 362 | 0.0276 | 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 | 362 | 0.0028 | 19 | c.184 others(36): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |