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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRMT8_chr12_3486203_3598973 | 3598564 | GCTGTATG others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00735.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0023others(64): Show | 67 | 364 | 0.1841 | -9 | c.*53 others(20): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 4592 | chr12 | TogoVar | ||||||
PROCR_chr20_35167072_35182362 | 35167418 | GTTGTTTG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01099.hp1 others(46): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0002c0002t0001g0003a0002c0002t0001g0017others(4): Show | 49 | 392 | 0.1250 | -9 | c.-47 others(20): Show |
PROCR | ENSG00000101000.6 | transcript | ENST00000216968.5 | protein_coding | 4653 | chr20 | TogoVar | ||||||
PROM1_chr4_15963228_16089023 | 15995322 | AGAAGAAG others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00639.hp2 others(64): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0044others(64): Show | 67 | 374 | 0.1791 | -9 | c.168 others(28): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 15/27 | chr4 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11847045 | CCCAGCCT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006a0001c0001t0003g0211a0001c0001t0003g0212 | 3 | 348 | 0.0086 | -9 | c.-81 others(26): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54128548 | AGCGACCC others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02572.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0001a0001c0004t0002a0001c0009t0001 | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0093others(10): Show | 16 | 227 | 0.0705 | -9 | c.114 others(26): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRPF3_chr1_150316533_150358233 | 150317185 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0232a0001c0003t0002g0233a0001c0003t0002g0234others(8): Show | 11 | 362 | 0.0304 | -9 | c.-44 others(20): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 4347 | chr1 | TogoVar | ||||||
PRPF40A_chr2_152646732_152722461 | 152690597 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp2 others(70): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0026a0001c0002t0003others(5): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0014others(58): Show | 73 | 372 | 0.1962 | -9 | c.471 others(24): Show |
PRPF40A | ENSG00000196504.21 | transcript | ENST00000545856.8 | protein_coding | 5/25 | chr2 | TogoVar | ||||||
PRPF4B_chr6_4016300_4069983 | 4052252 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01109.hp2 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0024a0002c0002t0027 | a0002c0002t0002g0020a0002c0002t0002g0179a0002c0002t0002g0180others(16): Show | 19 | 368 | 0.0516 | -9 | c.231 others(26): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRPF4_chr9_113270658_113297905 | 113285343 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0041a0001c0001t0001g0077others(6): Show | 13 | 426 | 0.0305 | -9 | c.750 others(24): Show |
PRPF4 | ENSG00000136875.13 | transcript | ENST00000374198.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRPH_chr12_49290147_49303686 | 49299542 | TAAGAAGA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp1 HG02698.hp1 NA18948.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 382 | 0.0183 | -9 | c.*11 others(20): Show |
PRPH | ENSG00000135406.15 | transcript | ENST00000257860.9 | protein_coding | 857 | chr12 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76315700 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0299a0001c0001t0004g0066a0001c0001t0004g0067others(38): Show | 41 | 366 | 0.1120 | -9 | c.782 others(26): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76320256 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0017 | a0001c0001t0003g0298a0001c0001t0010g0037a0001c0001t0010g0038others(3): Show | 6 | 366 | 0.0164 | -9 | c.782 others(26): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76320290 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0298a0001c0001t0005g0320a0001c0001t0010g0037others(4): Show | 7 | 366 | 0.0191 | -9 | c.782 others(26): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP2_chr17_18853131_18936287 | 18871653 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(173): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(172): Show | 176 | 392 | 0.4490 | -9 | c.173 others(24): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRR13_chr12_53436734_53451638 | 53451366 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 HG02922.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 3 | 388 | 0.0077 | -9 | c.*53 others(20): Show |
PRR13 | ENSG00000205352.11 | transcript | ENST00000429243.7 | protein_coding | 4729 | chr12 | TogoVar | ||||||
PRR20B_chr13_57142488_57155509 | 57146305 | CCCCGCCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01358.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0002g0006others(5): Show | 10 | 168 | 0.0595 | -9 | c.-14 others(20): Show |
PRR20B | ENSG00000204918.3 | transcript | ENST00000377930.1 | protein_coding | 1182 | chr13 | TogoVar | ||||||
PRR20B_chr13_57142488_57155509 | 57152861 | AGCCCGCC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01070.hp1 others(9): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0026a0001c0001t0004g0035a0001c0001t0009g0005others(8): Show | 12 | 168 | 0.0714 | -9 | c.*33 others(20): Show |
PRR20B | ENSG00000204918.3 | transcript | ENST00000377930.1 | protein_coding | 2353 | chr13 | TogoVar | ||||||
PRR22_chr19_5777960_5789746 | 5779062 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(118): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0035a0001c0003t0001g0007others(15): Show | 121 | 382 | 0.3168 | -9 | c.*39 others(20): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 3897 | chr19 | TogoVar | ||||||
PRR32_chrX_126814729_126826786 | 126814948 | ACACACAC others(2): Show |
A | upstream_gene_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 334 | 0.0030 | -9 | c.-48 others(20): Show |
PRR32 | ENSG00000183631.5 | transcript | ENST00000371125.4 | protein_coding | 4780 | chrX | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36351775 | ATTTATAT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01175.hp1 others(10): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0197a0001c0001t0001g0200a0001c0001t0001g0203others(10): Show | 13 | 272 | 0.0478 | -9 | c.-12 others(30): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36391024 | AGAAGCTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0013others(167): Show | 170 | 272 | 0.6250 | -9 | c.-12 others(28): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRC2C_chr1_171480530_171598511 | 171522581 | CCAGCATG others(2): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02738.hp1 NA18946.hp1 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0012a0004c0004t0001g0043a0004c0004t0001g0044others(7): Show | 10 | 336 | 0.0298 | -9 | c.833 others(24): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 7/34 | chr1 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171559505 | GTTTGTTT others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01099.hp1 others(17): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0004a0005c0006others(3): Show | a0001c0001t0001a0004c0004t0001a0004c0004t0004others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0100others(17): Show | 20 | 336 | 0.0595 | -9 | c.603 others(28): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703856 | GGTTTTTT others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01070.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0025a0001c0001t0072others(2): Show | a0001c0001t0010g0001a0001c0001t0010g0002a0001c0001t0025g0021others(4): Show | 10 | 336 | 0.0298 | -9 | c.*28 others(20): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2824 | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703907 | TTTTTTTG others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0001 | 1 | 336 | 0.0030 | -9 | c.*28 others(20): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2876 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PRRG4_chr11_32824927_32863120 | 32837507 | AGATGATG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0032others(2): Show | a0001c0001t0003g0012a0001c0001t0003g0036a0001c0001t0003g0081others(12): Show | 24 | 402 | 0.0597 | -9 | c.267 others(24): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRG4_chr11_32824927_32863120 | 32837535 | GATGATGA others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01175.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0003a0001c0001t0021a0001c0001t0049others(5): Show | a0001c0001t0003g0165a0001c0001t0003g0177a0001c0001t0021g0282others(14): Show | 18 | 402 | 0.0448 | -9 | c.267 others(24): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRG4_chr11_32824927_32863120 | 32837538 | GATGATTA others(2): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0021a0001c0001t0048others(2): Show | a0001c0001t0003g0171a0001c0001t0021g0280a0001c0001t0048g0279others(4): Show | 8 | 402 | 0.0199 | -9 | c.267 others(24): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRG4_chr11_32824927_32863120 | 32844467 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0015a0001c0001t0002g0019a0001c0001t0002g0029others(50): Show | 65 | 402 | 0.1617 | -9 | c.449 others(26): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRT2_chr16_29807193_29820881 | 29810105 | GGCAGCGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp2 HG02602.hp1 HG02683.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0002g0001a0003c0003t0001g0001 | 5 | 322 | 0.0155 | -9 | c.-22 others(20): Show |
PRRT2 | ENSG00000167371.21 | transcript | ENST00000358758.12 | protein_coding | 2087 | chr16 | TogoVar | ||||||
PRSS12_chr4_118275038_118358003 | 118299799 | AAAATAAA others(2): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0180a0001c0004t0001g0198a0001c0004t0001g0252others(1): Show | 4 | 364 | 0.0110 | -9 | c.163 others(26): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
PRSS48_chr4_151272161_151296862 | 151275825 | CTATTATT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG03098.hp1 |
a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0040a0000c0002t0001g0095 | 3 | 428 | 0.0070 | -9 | c.-13 others(20): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 1335 | chr4 | TogoVar | ||||||
PRSS50_chr3_46707117_46722869 | 46709948 | CGTCCCTC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01891.hp2 others(17): Show |
a0002a0004 | a0002c0002a0002c0005a0002c0018others(1): Show | a0002c0002t0002a0002c0005t0001a0002c0018t0002others(1): Show | a0002c0002t0002g0004a0002c0002t0002g0078a0002c0005t0001g0009others(3): Show | 20 | 420 | 0.0476 | -9 | c.*22 others(20): Show |
PRSS50 | ENSG00000283706.2 | transcript | ENST00000315170.13 | protein_coding | 2168 | chr3 | TogoVar | ||||||
PRTFDC1_chr10_24843614_24957606 | 24934239 | AAGAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0035a0001c0001t0005g0030a0001c0001t0005g0314others(1): Show | 4 | 338 | 0.0118 | -9 | c.339 others(26): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55709145 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02965.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0033a0001c0001t0034a0002c0002t0074others(3): Show | a0001c0001t0033g0098a0001c0001t0033g0103a0001c0001t0034g0101others(6): Show | 9 | 284 | 0.0317 | -9 | c.398 others(28): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 2/19 | chr15 | TogoVar | ||||||
PRUNE1_chr1_151003449_151040713 | 151038000 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00741.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0271others(8): Show | 11 | 408 | 0.0270 | -9 | c.*37 others(20): Show |
PRUNE1 | ENSG00000143363.17 | transcript | ENST00000271620.8 | protein_coding | 2288 | chr1 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76838645 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01168.hp1 others(57): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0011a0001c0028others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0114a0001c0001t0001g0149a0001c0001t0001g0229others(57): Show | 60 | 240 | 0.2500 | -9 | c.508 others(26): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 4/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76897390 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02897.hp2 HG03704.hp1 others(4): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0004others(2): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(4): Show | a0002c0002t0001g0219a0002c0002t0002g0016a0003c0003t0001g0218others(4): Show | 7 | 240 | 0.0292 | -9 | c.36+ others(24): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
PRXL2C_chr9_96634577_96660317 | 96644881 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01891.hp1 HG02257.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(6): Show | a0001c0001t0004g0071a0001c0001t0006g0078a0001c0001t0012g0169others(11): Show | 16 | 290 | 0.0552 | -9 | c.553 others(26): Show |
PRXL2C | ENSG00000158122.12 | transcript | ENST00000375234.8 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
PRX_chr19_40388768_40418378 | 40399904 | TTTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01168.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012a0003c0003t0001g0076a0003c0003t0001g0081others(2): Show | 6 | 306 | 0.0196 | -9 | c.185 others(26): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | ||||||
PRX_chr19_40388768_40418378 | 40405626 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02145.hp2 others(14): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0001a0005c0005t0001a0006c0006t0001 | a0001c0001t0001g0003a0001c0001t0001g0054a0001c0001t0001g0065others(11): Show | 17 | 306 | 0.0556 | -9 | c.28- others(24): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
PRY_chrY_22485397_22519637 | 22513539 | TGGGATTA others(2): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 119 | 0.0084 | -9 | c.186 others(24): Show |
PRY | ENSG00000169789.10 | transcript | ENST00000303728.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PSAP_chr10_71811298_71856251 | 71839178 | GGCAAATT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp2 others(99): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014others(72): Show | 102 | 430 | 0.2372 | -9 | c.41- others(24): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
PSAT1_chr9_78292125_78335093 | 78299144 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0001t0001g0153others(39): Show | 49 | 416 | 0.1178 | -9 | c.61- others(24): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSAT1_chr9_78292125_78335093 | 78302733 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(198): Show | 241 | 416 | 0.5793 | -9 | c.191 others(24): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18524782 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01934.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0022others(8): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(17): Show | a0001c0001t0006g0173a0001c0001t0006g0197a0001c0001t0007g0113others(22): Show | 25 | 228 | 0.1097 | -9 | c.*10 others(22): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2520 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18571363 | CCTCTGAT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(66): Show | a0001c0001t0001g0038a0001c0001t0001g0048a0001c0001t0001g0055others(85): Show | 88 | 228 | 0.3860 | -9 | c.278 others(28): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 14/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18743959 | TCACCACC others(2): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02698.hp1 HG02922.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0015a0001c0001t0069a0003c0004t0001 | a0001c0001t0015g0169a0001c0001t0015g0174a0001c0001t0069g0031others(2): Show | 5 | 228 | 0.0219 | -9 | c.217 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18752625 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01243.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0016a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(14): Show | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0207others(17): Show | 20 | 228 | 0.0877 | -9 | c.217 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18838802 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02083.hp1 HG02109.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0007a0002c0011others(4): Show | a0001c0001t0049a0002c0007t0031a0002c0011t0036others(7): Show | a0001c0001t0049g0154a0002c0007t0031g0001a0002c0011t0036g0160others(7): Show | 10 | 228 | 0.0439 | -9 | c.163 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar |