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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRL_chr6_22282246_22302036 | 22293617 | GGGAAGGA others(21): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0005 | a0001c0001t0001a0001c0008t0001a0002c0005t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0011others(17): Show | 43 | 446 | 0.0964 | -28 | c.204 others(43): Show |
PRL | ENSG00000172179.13 | transcript | ENST00000306482.2 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46635342 | AGGTCGGA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0055 | 1 | 426 | 0.0024 | -28 | c.-58 others(37): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 331 | chr21 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3556826 | AGTGGAGG others(21): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 364 | 0.0028 | -28 | c.481 others(45): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PROKR2_chr20_5294218_5321954 | 5298395 | TGTGTGTG others(21): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0013 | 4 | 424 | 0.0094 | -28 | c.*36 others(39): Show |
PROKR2 | ENSG00000101292.8 | transcript | ENST00000678254.1 | protein_coding | 822 | chr20 | TogoVar | ||||||
PROM1_chr4_15963228_16089023 | 16076878 | GCTTGAAG others(21): Show |
G | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0371 | 1 | 374 | 0.0027 | -28 | c.-21 others(45): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
PROS1_chr3_93868051_93978896 | 93878256 | AAAGCTCC others(21): Show |
A | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0310 | 1 | 314 | 0.0032 | -28 | c.164 others(45): Show |
PROS1 | ENSG00000184500.16 | transcript | ENST00000394236.9 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
PROS1_chr3_93868051_93978896 | 93956535 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(52): Show | 56 | 314 | 0.1783 | -28 | c.76+ others(45): Show |
PROS1 | ENSG00000184500.16 | transcript | ENST00000394236.9 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PROS1_chr3_93868051_93978896 | 93971355 | CTAAATAA others(21): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02698.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0040 | 3 | 314 | 0.0096 | -28 | c.76+ others(43): Show |
PROS1 | ENSG00000184500.16 | transcript | ENST00000394236.9 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11840937 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0188 | 1 | 348 | 0.0029 | -28 | c.-81 others(47): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PROX1_chr1_213982973_214046510 | 213994750 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01074.hp1 others(61): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0210a0001c0001t0002g0222a0001c0001t0002g0223others(51): Show | 64 | 274 | 0.2336 | -28 | c.-67 others(45): Show |
PROX1 | ENSG00000117707.17 | transcript | ENST00000366958.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRPF4B_chr6_4016300_4069983 | 4035284 | ATTTTTTT others(21): Show |
A | intron_variant | MODIFIER | NA18951.hp2 NA19006.hp2 NA19058.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0138a0002c0002t0002g0145a0002c0002t0002g0146 | 3 | 368 | 0.0082 | -28 | c.123 others(47): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRPF4_chr9_113270658_113297905 | 113285343 | ATTTTTTT others(21): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 426 | 0.0024 | -28 | c.750 others(43): Show |
PRPF4 | ENSG00000136875.13 | transcript | ENST00000374198.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRPF6_chr20_63976132_64038100 | 64005216 | TGCTGATG others(21): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0243 | 1 | 294 | 0.0034 | -28 | c.118 others(47): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PRPF8_chr17_1645629_1689867 | 1675847 | CCAACTGC others(21): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0211 | 1 | 291 | 0.0034 | -28 | c.267 others(43): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 18/42 | chr17 | TogoVar | ||||||
PRR23C_chr3_139037102_139049892 | 139047999 | GATATATA others(21): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 426 | 0.0024 | -28 | c.-34 others(39): Show |
PRR23C | ENSG00000233701.3 | transcript | ENST00000413199.1 | protein_coding | 3108 | chr3 | TogoVar | ||||||
PRR29_chr17_63993351_64009305 | 63999745 | GCATGCGT others(21): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 406 | 0.0025 | -28 | c.243 others(43): Show |
PRR29 | ENSG00000224383.8 | transcript | ENST00000412177.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36374081 | CCTTCCTT others(21): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0044 | 1 | 272 | 0.0037 | -28 | c.-12 others(49): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131452079 | AATAAGAT others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0041a0001c0046others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(167): Show | 170 | 216 | 0.7870 | -28 | c.112 others(47): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703856 | GGTTTTTT others(21): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(21): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0005a0001c0001t0014a0001c0001t0034others(9): Show | a0001c0001t0005g0001a0001c0001t0005g0004a0001c0001t0005g0015others(11): Show | 24 | 336 | 0.0714 | -28 | c.*28 others(39): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2824 | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703888 | TTTTTTTT others(21): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01261.hp1 HG01361.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0147a0001c0001t0190others(1): Show | a0001c0001t0009g0001a0001c0001t0009g0006a0001c0001t0147g0001others(2): Show | 9 | 336 | 0.0268 | -28 | c.*28 others(39): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2857 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PRRT4_chr7_128345325_128366690 | 128346632 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0235 | 1 | 448 | 0.0022 | -28 | c.*41 others(39): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3692 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346636 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp2 NA18522.hp2 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0001 | a0001c0003t0001g0037a0003c0004t0001g0152 | 2 | 448 | 0.0045 | -28 | c.*41 others(39): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3688 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346638 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 448 | 0.0022 | -28 | c.*41 others(39): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3686 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346640 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0023 | 1 | 448 | 0.0022 | -28 | c.*41 others(39): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3684 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346642 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG02886.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0229a0001c0003t0002g0066a0001c0003t0002g0206 | 3 | 448 | 0.0067 | -28 | c.*41 others(39): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3682 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346644 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0234 | 1 | 448 | 0.0022 | -28 | c.*41 others(39): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3680 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346646 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 448 | 0.0022 | -28 | c.*41 others(39): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3678 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346648 | CTCTCTAT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0001a0001c0017t0001 | a0001c0003t0001g0139a0001c0017t0001g0109 | 2 | 448 | 0.0045 | -28 | c.*41 others(39): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3676 | chr7 | TogoVar | ||||||
PRSS12_chr4_118275038_118358003 | 118299737 | AAAATAAA others(21): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 364 | 0.0028 | -28 | c.163 others(45): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
PRTFDC1_chr10_24843614_24957606 | 24880813 | CTCTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0292 | 1 | 338 | 0.0030 | -28 | c.340 others(45): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55612697 | AATATATA others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(20): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0115others(74): Show | 77 | 284 | 0.2711 | -28 | c.*72 others(39): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 20/20 | 7287 | chr15 | TogoVar | |||||
PRTG_chr15_55606544_55748152 | 55629367 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0051 | 1 | 284 | 0.0035 | -28 | c.262 others(45): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55629373 | ATATGTGT others(21): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0009 | a0009c0015 | a0009c0015t0044 | a0009c0015t0044g0011 | 1 | 284 | 0.0035 | -28 | c.262 others(45): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55670902 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0106a0001c0001t0111 | a0001c0001t0106g0229a0001c0001t0111g0228 | 2 | 284 | 0.0070 | -28 | c.204 others(47): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | ||||||
PSAPL1_chr4_7425285_7439930 | 7426290 | TGGCTTTG others(21): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(162): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(42): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0005g0000others(42): Show | 165 | 456 | 0.3618 | -28 | c.*69 others(39): Show |
PSAPL1 | ENSG00000178597.7 | transcript | ENST00000319098.7 | protein_coding | 3994 | chr4 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18615145 | GATTACCT others(21): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01106.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0048a0001c0001t0001g0068a0001c0001t0001g0120others(28): Show | 31 | 228 | 0.1360 | -28 | c.241 others(49): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 11/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865224 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0107 | 1 | 228 | 0.0044 | -28 | c.163 others(47): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865260 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0063 | 1 | 228 | 0.0044 | -28 | c.163 others(47): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865270 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0005 | a0005c0012 | a0005c0012t0010 | a0005c0012t0010g0187 | 1 | 228 | 0.0044 | -28 | c.163 others(47): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73189997 | GTGGCTCC others(21): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 378 | 0.0027 | -28 | c.549 others(45): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 6/11 | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202436 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151a0001c0001t0003g0206a0001c0001t0003g0303others(2): Show | 5 | 378 | 0.0132 | -28 | c.869 others(45): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73202438 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200a0001c0001t0003g0221a0001c0001t0003g0298 | 3 | 378 | 0.0079 | -28 | c.869 others(45): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSG4_chr19_43187702_43210638 | 43205079 | CCTTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp1 others(29): Show |
a0002a0014a0019 | a0002c0002a0014c0020a0019c0037 | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(3): Show | a0002c0002t0003g0001a0002c0002t0003g0166a0002c0002t0003g0167others(14): Show | 32 | 300 | 0.1067 | -28 | c.64+ others(41): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049613 | GAGGCAGA others(21): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG02809.hp2 others(6): Show |
a0003a0012 | a0003c0004a0003c0006a0012c0016 | a0003c0004t0003a0003c0006t0003a0012c0016t0003 | a0003c0004t0003g0061a0003c0004t0003g0262a0003c0006t0003g0059others(3): Show | 9 | 420 | 0.0214 | -28 | c.853 others(43): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049675 | GAAGAAAG others(21): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01891.hp2 HG02015.hp2 others(18): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0002a0003c0005t0004 | a0002c0002t0002g0008a0002c0002t0002g0020a0002c0002t0002g0155others(11): Show | 21 | 420 | 0.0500 | -28 | c.853 others(43): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049722 | GAAAGAAA others(21): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 420 | 0.0024 | -28 | c.853 others(43): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049726 | GAAAGAAA others(21): Show |
G | intron_variant | MODIFIER | HG01358.hp2 NA20129.hp2 |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0002a0004c0003t0001 | a0002c0002t0002g0174a0004c0003t0001g0080 | 2 | 420 | 0.0048 | -28 | c.853 others(43): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSMA8_chr18_26128869_26198355 | 26134340 | GGTGTGTG others(21): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp2 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0012others(14): Show | 18 | 268 | 0.0672 | -28 | c.102 others(43): Show |
PSMA8 | ENSG00000154611.15 | transcript | ENST00000415576.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PSMA8_chr18_26128869_26198355 | 26163213 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG02015.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081a0001c0001t0003g0082 | 2 | 268 | 0.0075 | -28 | c.477 others(45): Show |
PSMA8 | ENSG00000154611.15 | transcript | ENST00000415576.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PSMC1_chr14_90251553_90280429 | 90274787 | TACACACA others(21): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01106.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0058a0001c0001t0059others(4): Show | a0001c0001t0002g0007a0001c0001t0002g0012a0001c0001t0002g0025others(28): Show | 55 | 390 | 0.1410 | -28 | c.*24 others(39): Show |
PSMC1 | ENSG00000100764.14 | transcript | ENST00000261303.13 | protein_coding | 11/11 | 2405 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |