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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPM1L_chr3_160751231_161083902 | 160954921 | TTCTTTCC others(20): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0124a0001c0001t0005g0019 | 2 | 206 | 0.0097 | -27 | c.400 others(44): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPM1L_chr3_160751231_161083902 | 160954929 | TTCCTTCC others(20): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0196 | 1 | 206 | 0.0049 | -27 | c.400 others(44): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP1R12C_chr19_55085918_55122637 | 55097342 | CCACCGTC others(20): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG04204.hp2 others(1): Show |
a0001 | a0001c0004a0001c0024 | a0001c0004t0001a0001c0024t0001 | a0001c0004t0001g0213a0001c0004t0001g0216a0001c0004t0001g0230others(1): Show | 4 | 390 | 0.0103 | -27 | c.952 others(44): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150161644 | CAGAATTG others(20): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 312 | 0.0032 | -27 | c.306 others(46): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895766 | ACTTCCTT others(20): Show |
A | intron_variant | MODIFIER | HG03704.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0066a0001c0001t0014g0174 | 2 | 244 | 0.0082 | -27 | c.467 others(41): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895789 | CCCTCCTT others(20): Show |
C | intron_variant | MODIFIER | HG00597.hp2 NA18747.hp2 NA18954.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0026a0001c0001t0001g0047a0001c0001t0001g0073others(3): Show | 6 | 244 | 0.0246 | -27 | c.467 others(42): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895843 | TCCTCCTT others(20): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00741.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0002 | a0001c0001t0001g0029a0001c0001t0001g0056a0001c0001t0001g0070others(16): Show | 19 | 244 | 0.0779 | -27 | c.467 others(42): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895932 | CCTTCTTT others(20): Show |
C | intron_variant | MODIFIER | HG02273.hp2 HG02523.hp2 HG03688.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0026a0001c0002t0003 | a0001c0001t0001g0053a0001c0001t0001g0087a0001c0001t0001g0129others(4): Show | 7 | 244 | 0.0287 | -27 | c.467 others(42): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895970 | CCCTCCCT others(20): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03579.hp2 HG03688.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0004a0001c0002t0002g0187a0001c0002t0002g0211others(1): Show | 4 | 244 | 0.0164 | -27 | c.467 others(42): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R1C_chr2_181980853_182122756 | 182076181 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01981.hp1 NA18961.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057a0001c0001t0004g0210a0001c0001t0004g0212others(2): Show | 5 | 344 | 0.0145 | -27 | c.241 others(46): Show |
PPP1R1C | ENSG00000150722.11 | transcript | ENST00000682840.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R2B_chr5_156845295_156857528 | 156857096 | GTTTTTTT others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01346.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 4 | 430 | 0.0093 | -27 | c.*59 others(38): Show |
PPP1R2B | ENSG00000231989.5 | transcript | ENST00000522232.3 | protein_coding | 4569 | chr5 | TogoVar | ||||||
PPP1R37_chr19_45088179_45152285 | 45141963 | AGGTCCTG others(20): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01074.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0018a0002c0003t0006g0286a0002c0003t0006g0290others(6): Show | 10 | 342 | 0.0292 | -27 | c.568 others(40): Show |
PPP1R37 | ENSG00000104866.11 | transcript | ENST00000221462.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP2R2B_chr5_146575742_146883757 | 146673476 | TTAGAAGA others(20): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0098 | 1 | 170 | 0.0059 | -27 | c.447 others(46): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 5/9 | chr5 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6323817 | TGAGGCAG others(20): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(199): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(199): Show | 202 | 298 | 0.6779 | -27 | c.105 others(44): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 342293 | ACGGGAGT others(20): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 25 | 0.0400 | -27 | c.103 others(44): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 343083 | TGAGACCT others(20): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02015.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012 | a0002c0002t0002g0014a0002c0002t0012g0008 | 2 | 25 | 0.0800 | -27 | c.103 others(46): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 343883 | GGAGGCGG others(20): Show |
G | intron_variant | MODIFIER | HG01255.hp2 NA18960.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0003 | a0002c0002t0002g0010a0002c0003t0003g0013 | 2 | 25 | 0.0800 | -27 | c.103 others(46): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 344018 | AGAGGCGG others(20): Show |
A | intron_variant | MODIFIER | NA18940.hp1 NA19086.hp1 NA19088.hp1 |
a0002a0007 | a0002c0004a0002c0008a0007c0006 | a0002c0004t0002a0002c0008t0002a0007c0006t0004 | a0002c0004t0002g0005a0002c0008t0002g0007a0007c0006t0004g0001 | 3 | 25 | 0.1200 | -27 | c.103 others(46): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 344083 | GGAGACCT others(20): Show |
G | intron_variant | MODIFIER | HG02165.hp2 HG03834.hp2 NA18994.hp1 |
a0002a0006a0009 | a0002c0004a0006c0010a0009c0011 | a0002c0004t0002a0006c0010t0011a0009c0011t0013 | a0002c0004t0002g0009a0006c0010t0011g0002a0009c0011t0013g0023 | 3 | 25 | 0.1200 | -27 | c.103 others(46): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
PPP2R5A_chr1_212280410_212366853 | 212297112 | TTTTTTTT others(20): Show |
T | intron_variant | MODIFIER | HG02015.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218a0001c0001t0003g0225 | 2 | 384 | 0.0052 | -27 | c.181 others(46): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101783188 | CCTCCCCC others(20): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0096 | 2 | 138 | 0.0145 | -27 | c.94- others(42): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PPP2R5D_chr6_42979570_43017342 | 42998033 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 306 | 0.0033 | -27 | c.105 others(44): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP2R5D_chr6_42979570_43017342 | 42998035 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 306 | 0.0033 | -27 | c.105 others(44): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP2R5D_chr6_42979570_43017342 | 42998037 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03704.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0175 | 2 | 306 | 0.0065 | -27 | c.105 others(44): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP2R5D_chr6_42979570_43017342 | 42998039 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 306 | 0.0033 | -27 | c.105 others(44): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP4R3A_chr14_91452508_91515310 | 91508484 | CTAATGTA others(20): Show |
C | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 370 | 0.0027 | -27 | c.142 others(43): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | ||||||
PPP4R3B_chr2_55542292_55622622 | 55589927 | AAATTATA others(20): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01099.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0004a0001c0001t0007a0002c0006t0004 | a0001c0001t0004g0012a0001c0001t0004g0134a0001c0001t0004g0135others(8): Show | 15 | 382 | 0.0393 | -27 | c.922 others(42): Show |
PPP4R3B | ENSG00000275052.5 | transcript | ENST00000616407.2 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46389361 | AAACACAC others(20): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 394 | 0.0025 | -27 | c.135 others(44): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP6R1_chr19_55224779_55264017 | 55258561 | TCGCGCAG others(20): Show |
T | 5_prime_UTR_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0039 | 1 | 378 | 0.0027 | -27 | c.-16 others(36): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 1/24 | 11459 | chr19 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50339545 | GGTGTGTG others(20): Show |
G | upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 340 | 0.0029 | -27 | c.-41 others(38): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3781 | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50346153 | TCAGTTCC others(20): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG03041.hp2 |
a0009 | a0009c0016a0009c0030 | a0009c0016t0008a0009c0030t0027 | a0009c0016t0008g0221a0009c0016t0008g0222a0009c0030t0027g0069 | 3 | 340 | 0.0088 | -27 | c.-14 others(46): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68500450 | GAATACAC others(20): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0022a0001c0006t0025 | a0001c0001t0022g0182a0001c0006t0025g0181 | 2 | 252 | 0.0079 | -27 | c.-15 others(48): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68559778 | GGGTACAG others(20): Show |
G | intron_variant | MODIFIER | NA18952.hp2 NA19058.hp1 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130a0001c0001t0002g0137a0001c0001t0002g0193 | 3 | 252 | 0.0119 | -27 | c.845 others(44): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68559814 | ACCCTCTT others(20): Show |
A | intron_variant | MODIFIER | HG01516.hp1 NA18964.hp1 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0059a0001c0001t0001g0070others(1): Show | 4 | 252 | 0.0159 | -27 | c.845 others(44): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68559904 | CCACCCCA others(20): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02258.hp2 HG02615.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0011a0001c0001t0002g0130others(19): Show | 22 | 252 | 0.0873 | -27 | c.845 others(44): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68580746 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02886.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0023a0002c0002t0007g0148a0002c0002t0007g0149others(6): Show | 9 | 252 | 0.0357 | -27 | c.154 others(46): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRAMEF15_chr1_13310581_13327598 | 13327479 | CAAAAATT others(20): Show |
C | downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 302 | 0.0033 | -27 | c.*52 others(38): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 4882 | chr1 | TogoVar | ||||||
PRAMEF17_chr1_13384632_13397629 | 13388544 | CCCCCACC others(20): Show |
C | upstream_gene_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0004 | 1 | 430 | 0.0023 | -27 | c.-11 others(38): Show |
PRAMEF17 | ENSG00000204479.4 | transcript | ENST00000376098.4 | protein_coding | 1087 | chr1 | TogoVar | ||||||
PRDM10_chr11_129894711_130007835 | 129985792 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0053 | a0001c0053t0022 | a0001c0053t0022g0044 | 1 | 326 | 0.0031 | -27 | c.-11 others(48): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
PRDM10_chr11_129894711_130007835 | 129985794 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0027 | a0002c0027t0023 | a0002c0027t0023g0045 | 1 | 326 | 0.0031 | -27 | c.-11 others(48): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806319 | TCACCACC others(20): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0139 | 1 | 406 | 0.0025 | -27 | c.265 others(46): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41844737 | CACACAGA others(20): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0002g0226a0001c0001t0002g0249a0001c0001t0004g0057others(41): Show | 44 | 406 | 0.1084 | -27 | c.640 others(44): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41845168 | CACACACA others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(224): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0010others(64): Show | a0001c0001t0006g0119a0001c0001t0006g0290a0001c0001t0007g0122others(221): Show | 227 | 406 | 0.5591 | -27 | c.640 others(44): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856229 | TTCCTTCC others(20): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02818.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0005a0001c0010a0001c0037 | a0001c0005t0007a0001c0010t0012a0001c0010t0025others(1): Show | a0001c0005t0007g0010a0001c0010t0012g0008a0001c0010t0012g0009others(4): Show | 7 | 406 | 0.0172 | -27 | c.285 others(42): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3341180 | CAAGCTCC others(20): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG02735.hp2 HG02738.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0034others(7): Show | a0001c0001t0001g0096a0001c0001t0012g0129a0001c0001t0034g0075others(7): Show | 10 | 210 | 0.0476 | -27 | c.439 others(46): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PREPL_chr2_44312607_44366494 | 44315698 | TAAAACAT others(20): Show |
T | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0009 | a0009c0013 | a0009c0013t0062 | a0009c0013t0062g0294 | 1 | 382 | 0.0026 | -27 | c.*56 others(38): Show |
PREPL | ENSG00000138078.16 | transcript | ENST00000409411.6 | protein_coding | 1908 | chr2 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48664902 | GCCCAGAC others(20): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0013 | a0013c0030 | a0013c0030t0007 | a0013c0030t0007g0015 | 1 | 268 | 0.0037 | -27 | c.173 others(46): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48665236 | TCCAGATG others(20): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0007 | a0005c0008t0007g0001a0005c0008t0007g0106a0005c0008t0007g0232 | 4 | 268 | 0.0149 | -27 | c.173 others(46): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48665242 | TGGCCTGA others(20): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03017.hp2 HG03710.hp1 |
a0007 | a0007c0019a0007c0023 | a0007c0019t0008a0007c0019t0015a0007c0023t0001 | a0007c0019t0008g0071a0007c0019t0015g0141a0007c0023t0001g0010 | 3 | 268 | 0.0112 | -27 | c.173 others(46): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | ||||||
PREX2_chr8_67947046_68242032 | 67976619 | CAGAGAGA others(20): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp1 others(83): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(72): Show | a0001c0001t0002g0154a0001c0001t0002g0165a0001c0001t0002g0190others(83): Show | 86 | 190 | 0.4526 | -27 | c.141 others(46): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |