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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POU6F2_chr7_38972909_39473601 | 38994740 | C | CCTCCTCA others(20): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0052 | 1 | 170 | 0.0059 | 27 | c.105 others(46): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPA1_chr10_70197835_70238429 | 70221076 | A | ATATAATA others(20): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0256a0001c0001t0003g0258 | 2 | 408 | 0.0049 | 27 | c.124 others(44): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46146421 | G | GAAGAGAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0060a0001c0001t0008g0167 | 2 | 200 | 0.0100 | 27 | c.-44 others(38): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4104 | chr22 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35377871 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02735.hp2 HG03017.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0082a0001c0001t0001g0099a0001c0001t0001g0100others(7): Show | 10 | 238 | 0.0420 | 27 | c.-10 others(48): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPARG_chr3_12284070_12439344 | 12406532 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 NA19080.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0129a0001c0002t0001g0125 | 2 | 294 | 0.0068 | 27 | c.729 others(42): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPEF1_chrX_18702645_18832917 | 18821804 | A | AGAGAGAG others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 224 | 0.0045 | 27 | c.150 others(46): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | chrX | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70279905 | A | ATTGTGTG others(20): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19240.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0160a0001c0005t0003g0163 | 2 | 282 | 0.0071 | 27 | c.264 others(44): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA2_chr12_81252975_81764350 | 81642704 | A | ATGTATAT others(20): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 168 | 0.0060 | 27 | c.303 others(46): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81642783 | A | ATACATAC others(20): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 168 | 0.0060 | 27 | c.303 others(46): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA4_chr1_203021491_203083736 | 203071435 | T | TGCTGAGA others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(135): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0005a0001c0001t0026a0001c0002t0007others(20): Show | a0001c0001t0005g0279a0001c0001t0005g0280a0001c0001t0005g0283others(130): Show | 138 | 418 | 0.3301 | 27 | c.332 others(44): Show |
PPFIA4 | ENSG00000143847.16 | transcript | ENST00000295706.9 | protein_coding | 27/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42360110 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02273.hp1 HG02300.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0001t0002g0106others(7): Show | 10 | 376 | 0.0266 | 27 | c.299 others(44): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42360458 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0088a0001c0001t0006g0233 | 2 | 376 | 0.0053 | 27 | c.299 others(44): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPL_chr16_4877507_4942148 | 4899475 | C | CTGGCCTG others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(341): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0022a0001c0024others(68): Show | a0001c0001t0001a0001c0001t0009a0001c0022t0001others(78): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0017others(339): Show | 344 | 372 | 0.9247 | 27 | c.607 others(41): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 6/21 | chr16 | TogoVar | ||||||
PPM1B_chr2_44163875_44236472 | 44236402 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234a0001c0001t0001g0252 | 2 | 358 | 0.0056 | 27 | c.*56 others(38): Show |
PPM1B | ENSG00000138032.21 | transcript | ENST00000282412.9 | protein_coding | 4931 | chr2 | TogoVar | ||||||
PPM1H_chr12_62638994_62940150 | 62673715 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0111a0001c0001t0004g0139 | 2 | 252 | 0.0079 | 27 | c.124 others(46): Show |
PPM1H | ENSG00000111110.12 | transcript | ENST00000228705.7 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
PPM1J_chr1_112704998_112720332 | 112706430 | T | TACACACA others(20): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 422 | 0.0024 | 27 | c.*37 others(38): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3567 | chr1 | TogoVar | ||||||
PPM1L_chr3_160751231_161083902 | 160835039 | A | ACTTCTTC others(20): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0001a0001c0001t0009g0024a0001c0001t0009g0025others(2): Show | 5 | 206 | 0.0243 | 27 | c.399 others(46): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPM1L_chr3_160751231_161083902 | 161058118 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01257.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0078 | 2 | 206 | 0.0097 | 27 | c.575 others(44): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP1CB_chr2_28746830_28807940 | 28785065 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0231 | 1 | 366 | 0.0027 | 27 | c.592 others(44): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1CC_chr12_110714680_110747891 | 110737497 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0061 | 1 | 338 | 0.0030 | 27 | c.55+ others(42): Show |
PPP1CC | ENSG00000186298.12 | transcript | ENST00000335007.10 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
PPP1R13L_chr19_45374638_45410069 | 45409005 | C | CGATGGAG others(20): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 376 | 0.0027 | 27 | c.-40 others(38): Show |
PPP1R13L | ENSG00000104881.16 | transcript | ENST00000360957.10 | protein_coding | 3937 | chr19 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38801531 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG03942.hp1 NA18982.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0012 | a0001c0001t0001g0116a0001c0001t0001g0232a0001c0002t0012g0233 | 3 | 244 | 0.0123 | 27 | c.-43 others(38): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4165 | chr20 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AAGAAGGA others(20): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02083.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0100a0001c0009t0001g0149 | 2 | 244 | 0.0082 | 27 | c.250 others(46): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AAGGAGGA others(20): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02109.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0004others(1): Show | a0001c0001t0001g0110a0001c0001t0001g0231a0001c0001t0011g0118others(2): Show | 5 | 244 | 0.0205 | 27 | c.250 others(46): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGGA others(20): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0181 | 1 | 244 | 0.0041 | 27 | c.250 others(46): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38895766 | A | ACTTCCTT others(20): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 244 | 0.0041 | 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 | 38895781 | T | TCCTCCCT others(20): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03704.hp1 NA18944.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0150others(5): Show | 8 | 244 | 0.0328 | 27 | c.467 others(40): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895816 | T | TCCTCCTT others(20): Show |
intron_variant | MODIFIER | HG02080.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0142 | 2 | 244 | 0.0082 | 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 | 38895835 | T | TCCTCCCT others(20): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 244 | 0.0041 | 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 | 38895840 | C | CCTTCCTC others(20): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 244 | 0.0041 | 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 | T | TCCTCCTT others(20): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0242 | 1 | 244 | 0.0041 | 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 | T | TCCTCCTT others(20): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00639.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0023others(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 | 38895916 | C | CCCTCCCT others(20): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 244 | 0.0041 | 27 | c.467 others(42): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R17_chr7_31682215_31713455 | 31694387 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0237 | 1 | 442 | 0.0023 | 27 | c.83- others(42): Show |
PPP1R17 | ENSG00000106341.11 | transcript | ENST00000342032.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
PPP1R1B_chr17_39621952_39641624 | 39638811 | T | TCTTAAAC others(20): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 346 | 0.0029 | 27 | c.*29 others(38): Show |
PPP1R1B | ENSG00000131771.14 | transcript | ENST00000254079.9 | protein_coding | 2188 | chr17 | TogoVar | ||||||
PPP1R37_chr19_45088179_45152285 | 45120014 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0294 | 1 | 342 | 0.0029 | 27 | c.203 others(46): Show |
PPP1R37 | ENSG00000104866.11 | transcript | ENST00000221462.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP1R9A_chr7_94902594_95301400 | 95185378 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0040 | 1 | 290 | 0.0035 | 27 | c.175 others(48): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPP2R2B_chr5_146575742_146883757 | 146878727 | A | AGCTGCTG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0001 | 1 | 170 | 0.0059 | 27 | c.-28 others(36): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 1/10 | 657 | chr5 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131901020 | C | CCGGCGGC others(20): Show |
5_prime_UTR_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0001 | 1 | 394 | 0.0025 | 27 | c.-10 others(36): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 1/9 | 102 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
PPP2R3A_chr3_135960728_136152894 | 136137534 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03492.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0223a0003c0003t0001g0021 | 2 | 238 | 0.0084 | 27 | c.333 others(46): Show |
PPP2R3A | ENSG00000073711.11 | transcript | ENST00000264977.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP2R3B_chrX_328933_391907 | 343910 | A | AGAGGCGG others(20): Show |
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 | 352512 | A | ACACCTTG others(20): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0008 | a0008c0005 | a0008c0005t0003 | a0008c0005t0003g0006 | 1 | 25 | 0.0400 | 27 | c.511 others(44): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 2/12 | chrX | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 352512 | A | ACACCTTG others(20): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01934.hp1 HG02015.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012 | a0002c0002t0002g0010a0002c0002t0002g0014a0002c0002t0012g0008 | 3 | 25 | 0.1200 | 27 | c.511 others(44): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 2/12 | chrX | TogoVar | ||||||
PPP2R5A_chr1_212280410_212366853 | 212322265 | G | GGAGGGAG others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01123.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0006t0001 | a0001c0001t0001g0282a0001c0001t0001g0284a0001c0001t0001g0285others(33): Show | 36 | 384 | 0.0938 | 27 | c.182 others(44): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPP2R5C_chr14_101756709_101932977 | 101760941 | A | AGGAGGAG others(20): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0003g0130a0001c0001t0003g0131a0001c0001t0003g0135others(8): Show | 11 | 138 | 0.0797 | 27 | c.-95 others(36): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 767 | chr14 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101764028 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 138 | 0.0073 | 27 | c.93+ others(42): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PPP2R5C_chr14_101756709_101932977 | 101924445 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02630.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0031a0001c0001t0001g0049a0001c0001t0001g0117others(1): Show | 4 | 138 | 0.0290 | 27 | c.160 others(44): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PPP2R5E_chr14_63366364_63548377 | 63374634 | G | GATTATAT others(20): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0003 | 1 | 252 | 0.0040 | 27 | c.*13 others(38): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 14/14 | 1374 | chr14 | TogoVar | |||||
PPP2R5E_chr14_63366364_63548377 | 63432986 | G | GTCTTAAC others(20): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01433.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0006g0209a0001c0001t0007g0077a0001c0001t0007g0088others(5): Show | 8 | 252 | 0.0318 | 27 | c.355 others(46): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 3/13 | chr14 | TogoVar | ||||||
PPP3CC_chr8_22436078_22546125 | 22496485 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 326 | 0.0031 | 27 | c.373 others(44): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |