view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKN_chr6_161342417_162732766 | 161874820 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 32 | 0.0313 | 18 | c.735 others(37): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161946414 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 32 | 0.0313 | 18 | c.734 others(37): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162179968 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 | 1 | 32 | 0.0313 | 18 | c.534 others(37): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 4/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162302963 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 32 | 0.0313 | 18 | c.172 others(37): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162393155 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02602.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007 | a0001c0001t0004g0029a0001c0001t0006g0003a0001c0001t0007g0020 | 3 | 32 | 0.0938 | 18 | c.171 others(37): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162418613 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 32 | 0.0313 | 18 | c.171 others(37): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162450381 | C | CCCCCTGT others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 32 | 0.0313 | 18 | c.8-6 others(31): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162710374 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 32 | 0.0313 | 18 | c.7+1 others(33): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162710414 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0013 | 1 | 32 | 0.0313 | 18 | c.7+1 others(33): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKRA_chr2_178426414_178456175 | 178451126 | G | GCCACCTC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0156 | 1 | 406 | 0.0025 | 18 | c.-11 others(26): Show |
PRKRA | ENSG00000180228.14 | transcript | ENST00000325748.9 | protein_coding | 1/8 | 97 | chr2 | TogoVar | ||||||
PRKRIP1_chr7_102391363_102431666 | 102431117 | T | TTGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(11): Show | 15 | 382 | 0.0393 | 18 | c.*60 others(29): Show |
PRKRIP1 | ENSG00000128563.13 | transcript | ENST00000397912.3 | protein_coding | 4452 | chr7 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3613150 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0002t0091 | a0001c0001t0031g0121a0001c0002t0091g0113 | 2 | 227 | 0.0088 | 18 | c.952 others(33): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 7/8 | chrX | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3613854 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04199.hp1 NA19079.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0089a0002c0003t0024 | a0001c0001t0005g0016a0001c0001t0089g0152a0002c0003t0024g0105 | 3 | 227 | 0.0132 | 18 | c.952 others(35): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 7/8 | chrX | TogoVar | |||||||
PRLH_chr2_237561574_237572175 | 237566160 | C | CACACACA others(11): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 2 | 404 | 0.0050 | 18 | c.-41 others(27): Show |
PRLH | ENSG00000071677.1 | transcript | ENST00000165524.1 | protein_coding | 413 | chr2 | TogoVar | |||||||
PRMT3_chr11_20382716_20514338 | 20404218 | T | TTTGTTTT others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01123.hp1 others(34): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0010 | a0001c0001t0002a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0002g0013a0001c0001t0002g0015a0001c0001t0002g0016others(34): Show | 37 | 380 | 0.0974 | 18 | c.771 others(35): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRMT3_chr11_20382716_20514338 | 20504707 | T | TGTGAGAG others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085a0001c0001t0001g0367a0001c0001t0002g0356 | 3 | 380 | 0.0079 | 18 | c.148 others(37): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRMT7_chr16_68306019_68363584 | 68319709 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 |
a0001 | a0001c0007 | a0001c0007t0004a0001c0007t0013 | a0001c0007t0004g0260a0001c0007t0013g0261 | 2 | 284 | 0.0070 | 18 | c.96- others(33): Show |
PRMT7 | ENSG00000132600.18 | transcript | ENST00000441236.3 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRMT7_chr16_68306019_68363584 | 68319711 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01123.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(5): Show | a0001c0001t0001g0127a0001c0001t0001g0157a0001c0001t0001g0158others(21): Show | 24 | 284 | 0.0845 | 18 | c.96- others(33): Show |
PRMT7 | ENSG00000132600.18 | transcript | ENST00000441236.3 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3490675 | A | AAGAGAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02135.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0163a0001c0001t0001g0175a0001c0001t0001g0319others(4): Show | 7 | 364 | 0.0192 | 18 | c.-95 others(27): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 527 | chr12 | TogoVar | |||||||
PRMT8_chr12_3486203_3598973 | 3496199 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01361.hp1 HG03669.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0081a0001c0001t0003g0136others(1): Show | 4 | 364 | 0.0110 | 18 | c.75+ others(33): 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(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 364 | 0.0028 | 18 | c.75+ others(33): 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(11): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 364 | 0.0028 | 18 | c.75+ others(33): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT9_chr4_147632785_147689163 | 147685238 | C | CTTTCTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0141a0001c0001t0001g0142 | 3 | 222 | 0.0135 | 18 | c.-12 others(29): Show |
PRMT9 | ENSG00000164169.13 | transcript | ENST00000322396.7 | protein_coding | 1076 | chr4 | TogoVar | |||||||
PRODH2_chr19_35794988_35817845 | 35810260 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 HG06807.hp2 NA18522.hp1 |
a0001a0005 | a0001c0029a0005c0019 | a0001c0029t0001a0005c0019t0001 | a0001c0029t0001g0297a0005c0019t0001g0057 | 3 | 428 | 0.0070 | 18 | c.597 others(35): Show |
PRODH2 | ENSG00000250799.11 | transcript | ENST00000653904.2 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
PRODH2_chr19_35794988_35817845 | 35814606 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0010a0002c0011 | a0001c0010t0001a0002c0011t0001 | a0001c0010t0001g0063a0001c0010t0001g0066a0002c0011t0001g0064others(1): Show | 4 | 428 | 0.0094 | 18 | c.-18 others(29): Show |
PRODH2 | ENSG00000250799.11 | transcript | ENST00000653904.2 | protein_coding | 1762 | chr19 | TogoVar | |||||||
PROM1_chr4_15963228_16089023 | 16004829 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 374 | 0.0027 | 18 | c.145 others(37): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 13/27 | chr4 | TogoVar | |||||||
PROM1_chr4_15963228_16089023 | 16027297 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 374 | 0.0027 | 18 | c.510 others(35): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 5/27 | chr4 | TogoVar | |||||||
PRORP_chr14_35117552_35282622 | 35180526 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0175 | 1 | 314 | 0.0032 | 18 | c.116 others(35): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35237039 | T | TCTTCCTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00642.hp2 others(48): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0010a0001c0001t0025others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(48): Show | 51 | 314 | 0.1624 | 18 | c.127 others(39): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11840953 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0279 | 1 | 348 | 0.0029 | 18 | c.-81 others(37): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROSER3_chr19_35753176_35776166 | 35770266 | A | AACCTCAG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0089 | 1 | 424 | 0.0024 | 18 | c.*17 others(29): Show |
PROSER3 | ENSG00000167595.16 | transcript | ENST00000646935.2 | protein_coding | 11/11 | 1747 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PROSER3_chr19_35753176_35776166 | 35771989 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(22): Show |
a0001a0013 | a0001c0001a0013c0023 | a0001c0001t0004a0001c0001t0008a0001c0001t0021others(2): Show | a0001c0001t0004g0001a0001c0001t0004g0010a0001c0001t0004g0046others(8): Show | 25 | 424 | 0.0590 | 18 | c.*34 others(29): Show |
PROSER3 | ENSG00000167595.16 | transcript | ENST00000646935.2 | protein_coding | 824 | chr19 | TogoVar | |||||||
PROX2_chr14_74848033_74881145 | 74870441 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00733.hp1 others(33): Show |
a0001a0003a0011 | a0001c0001a0003c0015a0011c0014 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0028a0001c0001t0002g0039a0001c0001t0002g0178others(31): Show | 36 | 384 | 0.0938 | 18 | c.-17 others(35): Show |
PROX2 | ENSG00000119608.15 | transcript | ENST00000556489.4 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
PROX2_chr14_74848033_74881145 | 74878668 | A | AGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01358.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0026 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0179others(10): Show | 13 | 384 | 0.0339 | 18 | c.-30 others(29): Show |
PROX2 | ENSG00000119608.15 | transcript | ENST00000556489.4 | protein_coding | 2524 | chr14 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154053 | G | GTGGAGGA others(11): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 378 | 0.0027 | 18 | c.-46 others(29): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4594 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154152 | C | CGGGGCGC others(11): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 378 | 0.0027 | 18 | c.-45 others(29): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4495 | chr13 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348459 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346a0001c0001t0001g0347 | 2 | 362 | 0.0055 | 18 | c.184 others(35): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | chr1 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348460 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01952.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0002 | a0001c0001t0001g0006a0001c0001t0001g0208a0001c0001t0001g0210others(9): Show | 13 | 362 | 0.0359 | 18 | c.184 others(35): 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(11): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01257.hp2 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340a0001c0001t0001g0341a0001c0001t0001g0342 | 3 | 362 | 0.0083 | 18 | c.*45 others(29): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 4276 | chr1 | TogoVar | |||||||
PRPF4B_chr6_4016300_4069983 | 4029012 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0193a0002c0002t0002g0194 | 2 | 368 | 0.0054 | 18 | c.42- others(33): 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(11): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0162 | 1 | 368 | 0.0027 | 18 | c.123 others(37): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 64007425 | T | TCCCTCCC others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0238 | 1 | 294 | 0.0034 | 18 | c.118 others(37): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0302 | 1 | 392 | 0.0026 | 18 | c.582 others(33): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0238 | 1 | 392 | 0.0026 | 18 | c.582 others(33): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 HG04228.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0014 | a0001c0002t0001g0250a0001c0002t0001g0322a0001c0002t0014g0363 | 3 | 392 | 0.0077 | 18 | c.582 others(33): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01943.hp2 HG02523.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0003a0002c0004t0003 | a0002c0003t0003g0211a0002c0003t0003g0218a0002c0004t0003g0053 | 3 | 392 | 0.0077 | 18 | c.582 others(34): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH_chr12_49290147_49303686 | 49293981 | G | GTATGTGT others(11): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 18 | c.-12 others(29): Show |
PRPH | ENSG00000135406.15 | transcript | ENST00000257860.9 | protein_coding | 1165 | chr12 | TogoVar | |||||||
PRPH_chr12_49290147_49303686 | 49299530 | A | AAATAATA others(11): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0007 | 1 | 382 | 0.0026 | 18 | c.*11 others(29): Show |
PRPH | ENSG00000135406.15 | transcript | ENST00000257860.9 | protein_coding | 845 | chr12 | TogoVar | |||||||
PRPS1L1_chr7_18021770_18032846 | 18030627 | A | AATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0000a0001c0009t0001g0000 | 5 | 462 | 0.0108 | 18 | c.-28 others(29): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2782 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
PRPS1L1_chr7_18021770_18032846 | 18030651 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 462 | 0.0022 | 18 | c.-28 others(29): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2806 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar |