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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(135): Show |
a0002a0010a0017 | a0002c0002a0010c0008a0017c0017 | a0002c0002t0001a0002c0002t0008a0002c0002t0022others(8): Show | a0002c0002t0001g0001a0002c0002t0008g0009a0002c0002t0022g0017others(8): Show | 138 | 446 | 0.3094 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | |||||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(212): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000a0002c0002t0003g0000a0003c0003t0001g0000others(1): Show | 215 | 454 | 0.4736 | 0 | c.706 others(3): Show |
p.Arg others(4): Show |
OR51Q1 | ENSG00000167360.6 | transcript | ENST00000300778.4 | protein_coding | 1/1 | 796/1096 | 706/954 | 236/317 | chr11 | TogoVar | ||
OR52N4_chr11_5749243_5760958 | 5755254 | A | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(63): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0001a0003c0003t0006g0001 | 66 | 472 | 0.1398 | 0 | c.514 others(3): Show |
p.Arg others(4): Show |
OR52N4 | ENSG00000181074.5 | transcript | ENST00000641350.2 | protein_coding | 2/2 | 625/1329 | 514/966 | 172/321 | chr11 | TogoVar | ||
OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0000 | a0000c0000 | a0000c0000t0002 | a0000c0000t0002g0003a0000c0000t0002g0023 | 59 | 434 | 0.1359 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | ||
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(50): Show | 172 | 474 | 0.3629 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
OR6C3_chr12_55325746_55337636 | 55332245 | T | G | stop_gained | HIGH | NA18941.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0001 | 1 | 450 | 0.0022 | 0 | c.545 others(3): Show |
p.Leu others(4): Show |
OR6C3 | ENSG00000205329.3 | transcript | ENST00000641740.2 | protein_coding | 2/2 | 651/1042 | 545/936 | 182/311 | chr12 | TogoVar | ||
OR8G1_chr11_124236095_124259364 | 124250452 | C | G | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | 0 | c.777 others(3): Show |
p.Tyr others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1143/5055 | 777/936 | 259/311 | chr11 | TogoVar | ||
OR8G1_chr11_124236095_124259364 | 124250538 | TGATTTAT others(844): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | -851 | c.866 others(8): Show |
p.Ile others(5): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1232/5055 | 866/936 | 289/311 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0000a0001c0013t0000 | a0001c0001t0000g0000a0001c0013t0000g0000 | 130 | 364 | 0.3571 | 7605 | c.492 others(7612): Show |
p.Phe others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OXCT2_chr1_39764523_39776348 | 39770494 | GA | G | frameshift_variant | HIGH | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0003a0006a0007others(2): Show | a0003c0004a0003c0008a0003c0012others(5): Show | a0003c0004t0004a0003c0008t0001a0003c0012t0004others(5): Show | a0003c0004t0004g0000a0003c0008t0001g0000a0003c0012t0004g0000others(5): Show | 40 | 454 | 0.0881 | -1 | c.761 others(4): Show |
p.Phe others(5): Show |
OXCT2 | ENSG00000198754.5 | transcript | ENST00000327582.5 | protein_coding | 1/1 | 854/1826 | 761/1554 | 254/517 | chr1 | TogoVar | ||
PALD1_chr10_70473767_70573450 | 70529208 | G | GC | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(47): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0035a0001c0001t0001g0044a0001c0001t0001g0050others(47): Show | 50 | 308 | 0.1623 | 1 | c.186 others(6): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDLIM2_chr8_22575475_22599298 | 22593771 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp2 HG01192.hp2 others(8): Show |
a0004a0005a0011 | a0004c0006a0004c0009a0005c0011others(2): Show | a0004c0006t0001a0004c0006t0002a0004c0009t0001others(3): Show | a0004c0006t0001g0004a0004c0006t0001g0216a0004c0006t0002g0165others(8): Show | 11 | 380 | 0.0290 | 1 | c.924 others(4): Show |
p.Gly others(5): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 9/9 | 1055/1577 | 925/1059 | 309/352 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
PHB2_chr12_6960327_6975664 | 6965713 | CTG | C | splice_acceptor_variant others(2): Show |
HIGH | HG03516.hp2 NA18941.hp1 NA18942.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0005a0001c0002t0001g0022a0001c0002t0004g0021 | 15 | 378 | 0.0397 | -2 | c.873 others(13): Show |
PHB2 | ENSG00000215021.10 | transcript | ENST00000535923.6 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71947511 | CTTTG | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(61): Show |
a0003a0004a0006others(10): Show | a0003c0004a0003c0016a0003c0072others(16): Show | a0003c0004t0001a0003c0016t0001a0003c0072t0001others(16): Show | a0003c0004t0001g0033a0003c0004t0001g0146a0003c0004t0001g0159others(61): Show | 64 | 308 | 0.2078 | -4 | c.369 others(13): Show |
p.Thr others(6): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/30 | 4122/5623 | 3695/5199 | 1232/1732 | chr16 | TogoVar | ||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(332): Show | 337 | 376 | 0.8963 | 1 | c.-24 others(6): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PLXNB3_chrX_153759249_153784341 | 153769917 | A | AC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.161 others(5): Show |
p.Arg others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 7/36 | 1734/6153 | 1613/5730 | 538/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153770958 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.213 others(7): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLXNB3_chrX_153759249_153784341 | 153770976 | C | CT | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.214 others(5): Show |
p.Ser others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 12/36 | 2271/6153 | 2150/5730 | 717/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771056 | G | GC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.223 others(5): Show |
p.Leu others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 12/36 | 2352/6153 | 2231/5730 | 744/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771362 | A | AG | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.230 others(5): Show |
p.Glu others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 13/36 | 2431/6153 | 2310/5730 | 770/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771511 | C | CCA | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 2 | c.237 others(11): Show |
p.Pro others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 14/36 | 2498/6153 | 2377/5730 | 793/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771598 | G | GC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.246 others(5): Show |
p.Cys others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 14/36 | 2585/6153 | 2464/5730 | 822/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771634 | T | TC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.249 others(5): Show |
p.Ala others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 14/36 | 2620/6153 | 2499/5730 | 833/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771880 | G | GT | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.253 others(5): Show |
p.Pro others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 15/36 | 2657/6153 | 2536/5730 | 846/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771980 | C | CA | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.263 others(5): Show |
p.Asn others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 15/36 | 2758/6153 | 2637/5730 | 879/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153771989 | G | GC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.264 others(5): Show |
p.Ser others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 15/36 | 2768/6153 | 2647/5730 | 883/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153772231 | C | CG | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.272 others(5): Show |
p.Val others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 16/36 | 2844/6153 | 2723/5730 | 908/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153772255 | C | CCA | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 2 | c.274 others(11): Show |
p.Gly others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 16/36 | 2867/6153 | 2746/5730 | 916/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153772902 | G | GA | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.279 others(10): Show |
p.Ser others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 17/36 | 2914/6153 | 2793/5730 | 931/1909 | chrX | TogoVar | ||
PLXNB3_chrX_153759249_153784341 | 153772920 | G | GC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.281 others(5): Show |
p.Gln others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 17/36 | 2937/6153 | 2816/5730 | 939/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153773301 | T | TC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.298 others(5): Show |
p.Leu others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 18/36 | 3102/6153 | 2981/5730 | 994/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153773311 | C | CT | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.299 others(5): Show |
p.Gly others(5): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 18/36 | 3113/6153 | 2992/5730 | 998/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153773519 | G | GA | frameshift_variant others(1): Show |
HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.308 others(10): Show |
p.Gly others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 19/36 | 3207/6153 | 3086/5730 | 1029/1909 | chrX | TogoVar | ||
PLXNB3_chrX_153759249_153784341 | 153773544 | G | GC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.311 others(5): Show |
p.Thr others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 19/36 | 3233/6153 | 3112/5730 | 1038/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PLXNB3_chrX_153759249_153784341 | 153773594 | G | GA | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.316 others(10): Show |
p.Ala others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 19/36 | 3282/6153 | 3161/5730 | 1054/1909 | chrX | TogoVar | ||
PLXNB3_chrX_153759249_153784341 | 153776922 | G | GC | frameshift_variant | HIGH | NA18941.hp2 | a0013 | a0013c0032 | a0013c0032t0004 | a0013c0032t0004g0085 | 1 | 308 | 0.0033 | 1 | c.487 others(5): Show |
p.Leu others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 29/36 | 4992/6153 | 4871/5730 | 1624/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PMF1_chr1_156208007_156245042 | 156232327 | A | T | stop_gained | HIGH | NA18941.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0051 | 1 | 364 | 0.0028 | 0 | c.169 others(3): Show |
p.Arg others(3): Show |
PMF1 | ENSG00000160783.19 | transcript | ENST00000368277.3 | protein_coding | 2/5 | 178/1068 | 169/618 | 57/205 | chr1 | TogoVar | ||
PMIS2_chr19_35581173_35592296 | 35586327 | CT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0002a0003c0003t0001g0003a0003c0003t0001g0009others(3): Show | 72 | 444 | 0.1622 | -1 | c.69d others(3): Show |
p.Thr others(4): Show |
PMIS2 | ENSG00000283758.2 | transcript | ENST00000640449.2 | protein_coding | 1/2 | 156/690 | 69/453 | 23/150 | chr19 | TogoVar | ||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0000 | a0000c0002a0000c0004a0000c0005others(6): Show | a0000c0002t0002a0000c0002t0003a0000c0002t0004others(25): Show | a0000c0002t0002g0003a0000c0002t0002g0007a0000c0002t0002g0014others(183): Show | 212 | 423 | 0.5012 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | ||
PPIG_chr2_169579351_169646406 | 169584491 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(80): Show | 88 | 382 | 0.2304 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0005others(36): Show | a0002c0002a0003c0003a0005c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0005c0005t0002others(47): Show | a0002c0002t0002g0008a0002c0002t0002g0049a0002c0002t0002g0050others(99): Show | 128 | 422 | 0.3033 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 1/10 | 50/2195 | 1/2013 | 1/670 | chr19 | TogoVar | ||
PRAMEF2_chr1_12852086_12866909 | 12860036 | G | T | stop_gained | HIGH | HG00642.hp2 HG01515.hp2 HG02071.hp1 others(25): Show |
a0002a0014 | a0002c0002a0002c0022a0002c0023others(1): Show | a0002c0002t0003a0002c0022t0003a0002c0023t0008others(1): Show | a0002c0002t0003g0005a0002c0002t0003g0022a0002c0002t0003g0023others(3): Show | 28 | 338 | 0.0828 | 0 | c.631 others(3): Show |
p.Glu others(4): Show |
PRAMEF2 | ENSG00000120952.4 | transcript | ENST00000240189.2 | protein_coding | 3/4 | 718/1642 | 631/1425 | 211/474 | chr1 | TogoVar | ||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0022others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0034others(62): Show | 245 | 417 | 0.5875 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | ||
PRB2_chr12_11386540_11400567 | 11393558 | G | A | stop_gained | HIGH | HG03831.hp1 HG04228.hp1 NA18941.hp1 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0001a0008c0010t0002 | a0008c0010t0001g0052a0008c0010t0001g0053a0008c0010t0002g0050others(1): Show | 4 | 410 | 0.0098 | 0 | c.520 others(3): Show |
p.Arg others(4): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 3/4 | 558/1431 | 520/1251 | 174/416 | chr12 | TogoVar | ||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0007others(9): Show | a0003c0003a0005c0005a0007c0006others(9): Show | a0003c0003t0002a0005c0005t0002a0007c0006t0002others(9): Show | a0003c0003t0002g0004a0003c0003t0002g0023a0003c0003t0002g0033others(14): Show | 80 | 443 | 0.1806 | 1 | c.848 others(4): Show |
p.His others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 886/1227 | 848/1056 | 283/351 | chr12 | TogoVar | ||
PRR23D1_chr8_7534627_7547450 | 7541827 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(2): Show | a0000c0001t0003a0000c0001t0004a0000c0001t0006others(8): Show | a0000c0001t0003g0001a0000c0001t0003g0012a0000c0001t0004g0001others(11): Show | 60 | 166 | 0.3615 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 4/4 | 968/1588 | 790/840 | 264/279 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | ||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(319): Show | 376 | 416 | 0.9039 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar |