view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLPP3_chr1_56489761_56584563 | 56557010 | G | GAAAGAAA others(38): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0331 | 1 | 336 | 0.0030 | 45 | c.140 others(64): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557010 | G | GAAAGAAA others(38): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18954.hp2 NA19057.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0292 a0001c0002t0001g0091 a0001c0002t0001g0142 |
3 | 336 | 0.0089 | 45 | c.140 others(64): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPPR1_chr9_101023727_101330135 | 101078102 | G | GAGAAGGA others(38): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0088 | 1 | 203 | 0.0049 | 45 | c.-46 others(64): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101078102 | G | GAGAAGGA others(38): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0182 a0001c0001t0026g0155 |
2 | 203 | 0.0099 | 45 | c.-46 others(64): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349162 | C | CTTTCTTT others(38): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0036 | 1 | 436 | 0.0023 | 45 | c.*31 others(56): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2292 | chr19 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129729 | A | AAAGAAAG others(38): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 320 | 0.0031 | 45 | c.255 others(62): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXNA2_chr1_208017242_208249384 | 208047307 | T | TGTCCCCT others(38): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(93): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(71): Show | a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0001g0178 others(93): Show |
96 | 312 | 0.3077 | 45 | c.325 others(64): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 17/31 | chr1 | TogoVar | |||||||
PMEL_chr12_55949105_55971042 | 55968940 | A | AGAGCGTT others(38): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 396 | 0.0025 | 45 | c.-29 others(56): Show |
PMEL | ENSG00000185664.15 | transcript | ENST00000548747.6 | protein_coding | 2899 | chr12 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8851738 | C | CCCAAAGA others(38): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 408 | 0.0025 | 45 | c.*39 others(56): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2414 | chr16 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(38): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0022 | a0022c0027 | a0022c0027t0010 | a0022c0027t0010g0328 | 1 | 408 | 0.0025 | 45 | c.-95 others(54): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAATAT others(38): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0384 | 1 | 408 | 0.0025 | 45 | c.-95 others(54): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PNISR_chr6_99393050_99430308 | 99425665 | A | AAGGGGTT others(38): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 406 | 0.0025 | 45 | c.-56 others(54): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 358 | chr6 | TogoVar | |||||||
PNLIPRP1_chr10_116585959_116614175 | 116599256 | G | GAAAATAA others(38): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02896.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0011t0001 | a0001c0002t0001g0033 a0001c0011t0001g0069 |
3 | 420 | 0.0071 | 45 | c.815 others(60): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998615 | A | AATATATA others(38): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 2 | 286 | 0.0070 | 45 | c.-49 others(56): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4500 | chrX | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(38): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0008 | a0008c0014 | a0008c0014t0014 | a0008c0014t0014g0027 | 1 | 440 | 0.0023 | 45 | c.-21 others(56): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(38): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0008 | a0008c0018 | a0008c0018t0019 | a0008c0018t0019g0031 | 1 | 440 | 0.0023 | 45 | c.-21 others(56): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | |||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 2 | 340 | 0.0059 | 45 | c.438 others(60): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 78030446 | C | CTATATAT others(38): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 HG03139.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0005g0297 |
3 | 374 | 0.0080 | 45 | c.-10 others(56): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 932 | chr10 | TogoVar | |||||||
POLR3E_chr16_22292409_22340096 | 22303639 | C | CTTTTTTT others(38): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 358 | 0.0028 | 45 | c.36+ others(58): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
POM121_chr7_72920095_72953299 | 72925632 | G | GCGCCGCG others(38): Show |
disruptive_inframe_insertion | MODERATE | HG02647.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0018a0045 | a0018c0017a0045c0047 | a0018c0017t0010a0045c0047t0002 | a0018c0017t0010g0013 a0045c0047t0002g0012 |
5 | 424 | 0.0118 | 45 | c.554 others(52): Show |
p.Pro others(58): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 1/13 | 582/5842 | 555/3750 | 185/1249 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
POMT1_chr9_131497918_131528799 | 131515984 | A | ATGGAGCA others(38): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02155.hp1 HG02300.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 others(5): Show |
8 | 334 | 0.0240 | 45 | c.127 others(62): Show |
POMT1 | ENSG00000130714.19 | transcript | ENST00000402686.8 | protein_coding | 13/19 | chr9 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75989077 | T | TGGAGGGG others(38): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 278 | 0.0036 | 45 | c.*25 others(56): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2223 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75989077 | T | TGGAGGGG others(38): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02135.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 a0001c0002t0001g0090 |
2 | 278 | 0.0072 | 45 | c.*25 others(56): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2223 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75989106 | G | GTGGAGGT others(38): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02145.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0195 a0001c0005t0001g0036 |
2 | 278 | 0.0072 | 45 | c.*26 others(56): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2252 | chr7 | TogoVar | |||||||
POTEB2_chr15_20830372_20871314 | 20837140 | T | TGTGTGTG others(38): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 4 | 0.2500 | 45 | c.142 others(62): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | TogoVar | |||||||
POTEB_chr15_21841329_21882735 | 21850837 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0043 | 1 | 64 | 0.0156 | 45 | c.129 others(64): Show |
POTEB | ENSG00000233917.9 | transcript | ENST00000439682.2 | protein_coding | 9/10 | chr15 | TogoVar | |||||||
POTEB_chr15_21841329_21882735 | 21850841 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0046 | 1 | 64 | 0.0156 | 45 | c.129 others(64): Show |
POTEB | ENSG00000233917.9 | transcript | ENST00000439682.2 | protein_coding | 9/10 | chr15 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111268477 | T | TTTTTATT others(38): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 380 | 0.0026 | 45 | c.120 others(64): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70206860 | A | AGGAGGGG others(38): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0115 a0001c0001t0003g0125 |
2 | 408 | 0.0049 | 45 | c.726 others(60): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70206865 | A | AGGAGGGG others(38): Show |
intron_variant | MODIFIER | HG02896.hp2 NA18981.hp1 NA19081.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0079 others(1): Show |
4 | 408 | 0.0098 | 45 | c.726 others(60): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(38): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01358.hp1 HG01928.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0072 others(17): Show |
20 | 200 | 0.1000 | 45 | c.-12 others(64): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(38): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0029a0001c0001t0038others(2): Show | a0001c0001t0006g0134 a0001c0001t0029g0162 a0001c0001t0038g0126 others(2): Show |
5 | 200 | 0.0250 | 45 | c.-12 others(64): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174269 | G | GGAAGGAA others(38): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 200 | 0.0050 | 45 | c.-12 others(64): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPIAL4H_chr1_146339006_146349765 | 146345042 | C | CTTTCTTT others(38): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 416 | 0.0024 | 45 | c.-32 others(54): Show |
PPIAL4H | ENSG00000270339.4 | transcript | ENST00000584068.4 | protein_coding | 278 | chr1 | TogoVar | |||||||
PPIG_chr2_169579351_169646406 | 169606591 | C | CAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0334 | 1 | 382 | 0.0026 | 45 | c.244 others(60): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPIP5K2_chr5_103115301_103217799 | 103118773 | C | CATACACT others(38): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0002c0003others(2): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0008others(16): Show | a0001c0002t0002g0196 a0001c0002t0002g0200 a0001c0002t0002g0203 others(95): Show |
98 | 284 | 0.3451 | 45 | c.-20 others(56): Show |
PPIP5K2 | ENSG00000145725.21 | transcript | ENST00000358359.8 | protein_coding | 1527 | chr5 | TogoVar | |||||||
PPM1H_chr12_62638994_62940150 | 62673715 | C | CTTTTTTT others(38): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 252 | 0.0040 | 45 | c.124 others(64): Show |
PPM1H | ENSG00000111110.12 | transcript | ENST00000228705.7 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
PPP1CB_chr2_28746830_28807940 | 28785065 | C | CTTTTTTT others(38): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0127 | 1 | 366 | 0.0027 | 45 | c.592 others(62): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R14D_chr15_40810451_40833708 | 40826924 | C | CTGGAACA others(38): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 388 | 0.0026 | 45 | c.255 others(62): Show |
PPP1R14D | ENSG00000166143.10 | transcript | ENST00000299174.10 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGAG others(38): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0108 | 1 | 244 | 0.0041 | 45 | c.250 others(64): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | |||||||
PPP1R42_chr8_66959103_67033554 | 67023124 | T | TGTTTTTG others(38): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(28): Show |
31 | 132 | 0.2349 | 45 | c.-84 others(62): Show |
PPP1R42 | ENSG00000178125.15 | transcript | ENST00000685739.1 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
PPP3CC_chr8_22436078_22546125 | 22489696 | T | TTATATAT others(38): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0223 a0001c0001t0006g0227 a0001c0001t0006g0228 |
3 | 326 | 0.0092 | 45 | c.373 others(62): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRCP_chr11_82817936_82905430 | 82841053 | A | AATATATA others(38): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 320 | 0.0031 | 45 | c.922 others(62): Show |
PRCP | ENSG00000137509.12 | transcript | ENST00000313010.8 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
PRDM10_chr11_129894711_130007835 | 129963382 | G | GAAAAGAG others(38): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02451.hp2 |
a0001a0002 | a0001c0029a0002c0008 | a0001c0029t0001a0002c0008t0006 | a0001c0029t0001g0135 a0002c0008t0006g0175 |
2 | 326 | 0.0061 | 45 | c.-11 others(64): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0050 | 1 | 392 | 0.0026 | 45 | c.683 others(60): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806397 | C | CCATCACC others(38): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0336 | 1 | 406 | 0.0025 | 45 | c.265 others(64): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855250 | A | ACCACCCT others(38): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0210 | 1 | 252 | 0.0040 | 45 | c.114 others(64): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855586 | A | ACTTTACA others(38): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 252 | 0.0040 | 45 | c.114 others(64): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66562138 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03098.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0071a0001c0002t0052others(1): Show | a0001c0001t0001g0172 a0001c0001t0071g0153 a0001c0002t0052g0040 others(1): Show |
4 | 178 | 0.0225 | 45 | c.288 others(64): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906078 | C | CCTTCTTC others(38): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0327 a0001c0012t0001g0049 |
2 | 362 | 0.0055 | 45 | c.176 others(62): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |