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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 324 | 0.0031 | 34 | c.263 others(51): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 324 | 0.0031 | 34 | c.263 others(51): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDGFC_chr4_156755454_156976799 | 156824327 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 208 | 0.0048 | 34 | c.315 others(53): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(27): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 400 | 0.0025 | 34 | c.940 others(49): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDIA2_chr16_278164_292215 | 285937 | C | CCCCGCGG others(27): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0147 | 1 | 436 | 0.0023 | 34 | c.111 others(51): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDIA5_chr3_123062025_123167104 | 123117374 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0001a0001c0003t0001a0002c0008t0001 | a0001c0001t0001g0083a0001c0001t0001g0282a0001c0003t0001g0270others(1): Show | 4 | 332 | 0.0121 | 34 | c.609 others(51): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDS5A_chr4_39817863_39982911 | 39842907 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 356 | 0.0028 | 34 | c.354 others(51): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39842909 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0041a0001c0001t0006g0238 | 2 | 356 | 0.0056 | 34 | c.354 others(51): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655359 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0194 | 1 | 334 | 0.0030 | 34 | c.313 others(51): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 334 | 0.0030 | 34 | c.313 others(51): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 334 | 0.0030 | 34 | c.313 others(51): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 334 | 0.0030 | 34 | c.313 others(51): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 334 | 0.0030 | 34 | c.313 others(51): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01099.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0030a0001c0001t0001g0031others(14): Show | 17 | 416 | 0.0409 | 34 | c.-46 others(45): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTTTATAT others(27): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 416 | 0.0024 | 34 | c.-46 others(45): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26704083 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18965.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(1): Show | 4 | 416 | 0.0096 | 34 | c.163 others(49): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAATATA others(27): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0255 | 1 | 260 | 0.0039 | 34 | c.296 others(53): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107458412 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 260 | 0.0039 | 34 | c.296 others(49): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 14984476 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 279 | 0.0036 | 34 | c.21+ others(49): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GGCGGGGG others(27): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0208 | 1 | 358 | 0.0028 | 34 | c.143 others(49): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741165 | G | GGGGGGCT others(27): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0073 | 1 | 358 | 0.0028 | 34 | c.143 others(49): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741188 | G | GGGGGGGC others(27): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 358 | 0.0028 | 34 | c.143 others(49): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741209 | C | CGCGGGGG others(27): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0321 | 1 | 358 | 0.0028 | 34 | c.143 others(49): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGGC others(27): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 358 | 0.0028 | 34 | c.143 others(49): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGGC others(27): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0088 | 1 | 358 | 0.0028 | 34 | c.143 others(49): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741454 | G | GGGGGGCT others(27): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 358 | 0.0028 | 34 | c.143 others(49): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDZD11_chrX_70281595_70294927 | 70290654 | A | ATTTTTTT others(27): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 310 | 0.0032 | 34 | c.-80 others(43): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 728 | chrX | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19057.hp2 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0005a0003c0004t0042 | a0002c0003t0005g0016a0003c0004t0042g0025 | 2 | 216 | 0.0093 | 34 | c.-36 others(55): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18906.hp1 NA19005.hp1 |
a0002a0005 | a0002c0002a0002c0003a0005c0045 | a0002c0002t0008a0002c0003t0005a0005c0045t0038 | a0002c0002t0008g0175a0002c0003t0005g0017a0005c0045t0038g0176 | 3 | 216 | 0.0139 | 34 | c.-36 others(55): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41266310 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0118 | 1 | 206 | 0.0049 | 34 | c.843 others(53): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(27): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0096 | 1 | 206 | 0.0049 | 34 | c.843 others(55): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEAR1_chr1_156888718_156921429 | 156911115 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02258.hp1 HG02280.hp2 others(1): Show |
a0001a0006a0008 | a0001c0002a0006c0049a0008c0022 | a0001c0002t0003a0006c0049t0001a0008c0022t0002 | a0001c0002t0003g0091a0006c0049t0001g0183a0008c0022t0002g0122others(1): Show | 4 | 384 | 0.0104 | 34 | c.195 others(51): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEBP4_chr8_22708251_22932914 | 22765826 | G | GTGGATCA others(27): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01516.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0003c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0003others(5): Show | a0001c0001t0001g0051a0001c0001t0002g0215a0003c0003t0003g0136others(6): Show | 9 | 278 | 0.0324 | 34 | c.358 others(53): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PELI3_chr11_66461905_66482337 | 66463324 | C | CCAATCTT others(27): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 396 | 0.0025 | 34 | c.-37 others(45): Show |
PELI3 | ENSG00000174516.15 | transcript | ENST00000320740.12 | protein_coding | 3580 | chr11 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 410 | 0.0024 | 34 | c.152 others(53): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PERM1_chr1_970198_987093 | 977786 | C | CCCACCAA others(27): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0128a0001c0001t0001g0266 | 3 | 408 | 0.0074 | 34 | c.214 others(53): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977809 | A | ACCACCCC others(27): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0010 | a0010c0013 | a0010c0013t0019 | a0010c0013t0019g0210 | 1 | 408 | 0.0025 | 34 | c.214 others(53): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERP_chr6_138083505_138112419 | 138086314 | A | AATATATA others(27): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01934.hp2 HG01978.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0022a0002c0002t0005others(3): Show | a0001c0001t0001g0003a0001c0001t0022g0090a0002c0002t0005g0006others(6): Show | 9 | 430 | 0.0209 | 34 | c.*57 others(45): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | ||||||
PEX11G_chr19_7471875_7494035 | 7474754 | A | AGTGTGTG others(27): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 2 | 416 | 0.0048 | 34 | c.*24 others(45): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2120 | chr19 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92516065 | G | GAGAAGAG others(27): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0233 | 1 | 310 | 0.0032 | 34 | c.123 others(53): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG00733.hp1 HG03831.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0049a0001c0001t0071 | a0001c0001t0001g0088a0001c0001t0049g0087a0001c0001t0071g0064 | 3 | 220 | 0.0136 | 34 | c.21+ others(51): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024373 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0086 | a0001c0001t0045g0105a0001c0001t0086g0103 | 2 | 220 | 0.0091 | 34 | c.21+ others(51): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024373 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 220 | 0.0046 | 34 | c.21+ others(51): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PFDN4_chr20_54203087_54224961 | 54223120 | A | ACCCCACA others(27): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 438 | 0.0023 | 34 | c.*39 others(45): Show |
PFDN4 | ENSG00000101132.10 | transcript | ENST00000371419.7 | protein_coding | 3160 | chr20 | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44330246 | G | GCTGCCCA others(27): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 392 | 0.0026 | 34 | c.*33 others(45): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 2874 | chr21 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3095232 | C | CCGCACAT others(27): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0027a0001c0031t0001g0042 | 2 | 402 | 0.0050 | 34 | c.187 others(51): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3095232 | C | CCGCGCAT others(27): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00642.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(29): Show | a0001c0001t0002g0006a0001c0001t0002g0109a0001c0001t0002g0191others(52): Show | 55 | 402 | 0.1368 | 34 | c.187 others(51): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGAM5_chr12_132705842_132727734 | 132725795 | C | CCTTTTAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 394 | 0.0025 | 34 | c.*49 others(45): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 3062 | chr12 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(27): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0189 | 2 | 376 | 0.0053 | 34 | c.-35 others(45): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(27): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 376 | 0.0027 | 34 | c.-35 others(45): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar |