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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIGL_chr17_16212210_16331411 | 16216786 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0080 others(20): Show |
23 | 122 | 0.1885 | 21 | c.-44 others(30): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 423 | chr17 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16246672 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18995.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 |
3 | 109 | 0.0275 | 21 | c.335 others(40): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16311467 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03579.hp2 HG03704.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0102 others(7): Show |
10 | 12 | 0.8333 | 21 | c.427 others(38): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGN_chr18_62036164_62192056 | 62062882 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 a0002c0002t0002g0076 |
2 | 43 | 0.0465 | 21 | c.267 others(40): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIGO_chr9_35083688_35101591 | 35083982 | C | CCACTAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(43): Show |
314 | 424 | 0.7406 | 21 | c.*51 others(32): Show |
PIGO | ENSG00000165282.15 | transcript | ENST00000378617.4 | protein_coding | 4705 | chr9 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571095 | G | GTGTGTGT others(14): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0140 | 1 | 356 | 0.0028 | 21 | c.-10 others(38): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571095 | G | GTGTGTGT others(14): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0156 | 1 | 356 | 0.0028 | 21 | c.-10 others(38): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGT_chr20_45411141_45431241 | 45426318 | T | TCCTACCC others(14): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0222 a0001c0007t0002g0026 |
4 | 460 | 0.0087 | 21 | c.*49 others(30): Show |
PIGT | ENSG00000124155.19 | transcript | ENST00000279036.12 | protein_coding | 78 | chr20 | TogoVar | |||||||
PIGW_chr17_36529987_36544303 | 36535201 | C | CTTGTGCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG03195.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0003 | 2 | 402 | 0.0050 | 21 | c.-39 others(30): Show |
PIGW | ENSG00000277161.2 | transcript | ENST00000614443.2 | protein_coding | 1/2 | 1890 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGW_chr17_36529987_36544303 | 36535212 | G | GCGGCGGA others(14): Show |
5_prime_UTR_variant | MODIFIER | HG01192.hp2 HG03225.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 a0001c0001t0006g0005 |
5 | 374 | 0.0134 | 21 | c.-37 others(30): Show |
PIGW | ENSG00000277161.2 | transcript | ENST00000614443.2 | protein_coding | 1/2 | 1870 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGX_chr3_196707377_196741007 | 196735294 | C | CAAAAAAA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02080.hp1 HG04199.hp1 NA18941.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 a0001c0001t0013g0015 a0001c0001t0013g0025 others(3): Show |
7 | 79 | 0.0886 | 21 | c.*14 others(32): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 6/6 | 1423 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 91 | 0.0110 | 21 | c.*18 others(30): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 91 | 0.0110 | 21 | c.*18 others(30): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18303115 | C | CTTCTTTC others(14): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 26 | 0.0385 | 21 | c.103 others(40): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18554572 | T | TGAATTGT others(14): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0161 | 1 | 174 | 0.0057 | 21 | c.359 others(40): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C3_chr18_41950234_42092830 | 41979895 | T | TATTATTA others(14): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0233 | 1 | 241 | 0.0041 | 21 | c.532 others(38): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PIK3CD_chr1_9646731_9734114 | 9674330 | A | AACAAACA others(14): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 316 | 0.0032 | 21 | c.-13 others(42): Show |
PIK3CD | ENSG00000171608.18 | transcript | ENST00000377346.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68244512 | A | ACTGCCCC others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0233 | 1 | 73 | 0.0137 | 21 | c.334 others(40): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R2_chr19_18148163_18175532 | 18159144 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0116 | 1 | 11 | 0.0909 | 21 | c.323 others(38): Show |
PIK3R2 | ENSG00000105647.19 | transcript | ENST00000222254.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIM3_chr22_49955772_49969072 | 49960441 | T | TCTGCCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0001 | 1 | 424 | 0.0024 | 21 | c.-50 others(30): Show |
PIM3 | ENSG00000198355.5 | transcript | ENST00000360612.5 | protein_coding | 330 | chr22 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22536725 | A | AAAAAAAA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0003 | a0002c0003t0048 | a0002c0003t0048g0130 | 1 | 169 | 0.0059 | 21 | c.*47 others(30): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 10/10 | 475 | chr10 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22596205 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0034 | a0001c0002t0001g0076 a0001c0002t0034g0019 |
2 | 9 | 0.2222 | 21 | c.340 others(38): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
PIP4P2_chr8_90988802_91045859 | 91040829 | T | TGCTGCCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0307 | 1 | 340 | 0.0029 | 21 | c.-10 others(29): Show |
PIP4P2 | ENSG00000155099.8 | transcript | ENST00000285419.8 | protein_coding | 1/7 | 81 | chr8 | TogoVar | ||||||
PIP4P2_chr8_90988802_91045859 | 91040835 | C | CGCTGCTG others(14): Show |
5_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0031 | 1 | 339 | 0.0029 | 21 | c.-10 others(29): Show |
PIP4P2 | ENSG00000155099.8 | transcript | ENST00000285419.8 | protein_coding | 1/7 | 87 | chr8 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68735316 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 43 | 0.0233 | 21 | c.-24 others(40): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68793082 | T | TGTGTATG others(14): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00741.hp2 HG01106.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(45): Show |
48 | 179 | 0.2682 | 21 | c.-85 others(40): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PITPNB_chr22_27846669_27924256 | 27885212 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 19 | 0.0526 | 21 | c.456 others(38): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 7/11 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67522659 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0069 | 1 | 49 | 0.0204 | 21 | c.49- others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67522659 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0179 | 1 | 49 | 0.0204 | 21 | c.49- others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599034 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01993.hp2 HG04199.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0067 | a0001c0001t0003g0010 a0001c0001t0014g0034 a0001c0001t0067g0045 |
3 | 147 | 0.0204 | 21 | c.366 others(40): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599034 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0046 | a0001c0001t0036g0018 a0001c0001t0046g0110 |
2 | 146 | 0.0137 | 21 | c.366 others(40): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599034 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 145 | 0.0069 | 21 | c.366 others(40): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67661994 | C | CATAATAA others(14): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0108 | 1 | 179 | 0.0056 | 21 | c.463 others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0003 a0001c0001t0006g0118 a0001c0001t0006g0137 others(4): Show |
7 | 49 | 0.1429 | 21 | c.683 others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG02523.hp2 others(12): Show |
a0001 | a0001c0002a0001c0005a0001c0015others(1): Show | a0001c0002t0001a0001c0005t0002a0001c0015t0002others(1): Show | a0001c0002t0001g0003 a0001c0002t0001g0238 a0001c0002t0001g0239 others(10): Show |
15 | 21 | 0.7143 | 21 | c.-18 others(32): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PITX3_chr10_102225189_102246512 | 102242928 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 2 | 38 | 0.0526 | 21 | c.-16 others(32): Show |
PITX3 | ENSG00000107859.11 | transcript | ENST00000370002.8 | protein_coding | 1417 | chr10 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130344445 | A | AGACGTGA others(14): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(62): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0002t0001g0046 a0001c0002t0002g0010 a0001c0002t0002g0036 others(50): Show |
65 | 424 | 0.1533 | 21 | c.191 others(38): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24760780 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01099.hp2 others(21): Show |
a0001a0025 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 others(21): Show |
24 | 169 | 0.1420 | 21 | c.103 others(36): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340621 | T | TCTCCCTC others(14): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 332 | 0.0030 | 21 | c.200 others(40): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18982.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0310 |
2 | 27 | 0.0741 | 21 | c.128 others(40): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109382610 | G | GGATGAGG others(14): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 344 | 0.0029 | 21 | c.31+ others(34): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
PJVK_chr2_178446378_178467102 | 178461584 | C | CTTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0073 | 1 | 178 | 0.0056 | 21 | c.*32 others(30): Show |
PJVK | ENSG00000204311.15 | transcript | ENST00000644580.2 | protein_coding | 7/7 | 329 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PKD1L1_chr7_47769614_47953466 | 47880284 | A | ATATATTT others(14): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0037 | a0037c0047 | a0037c0047t0003 | a0037c0047t0003g0060 | 1 | 67 | 0.0149 | 21 | c.352 others(38): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47880284 | A | ATATTTTT others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0020 | a0020c0142 | a0020c0142t0003 | a0020c0142t0003g0234 | 1 | 67 | 0.0149 | 21 | c.352 others(38): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100306855 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0226 | 1 | 104 | 0.0096 | 21 | c.350 others(38): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02145.hp1 others(3): Show |
a0002a0008a0026others(1): Show | a0002c0002a0008c0008a0026c0016others(1): Show | a0002c0002t0001a0002c0002t0013a0008c0008t0001others(3): Show | a0002c0002t0001g0098 a0002c0002t0013g0105 a0008c0008t0001g0095 others(3): Show |
6 | 60 | 0.1000 | 21 | c.208 others(38): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109503268 | G | GGACTCCA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0003others(66): Show | a0001c0001a0001c0020a0001c0049others(78): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(100): Show | a0001c0001t0002g0005 a0001c0001t0002g0179 a0001c0001t0002g0180 others(270): Show |
278 | 280 | 0.9929 | 21 | c.108 others(42): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109538047 | A | ATTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0057 | a0057c0076 | a0057c0076t0021 | a0057c0076t0021g0106 | 1 | 110 | 0.0091 | 21 | c.*79 others(32): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 841 | chr8 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51766615 | A | ATATTTTT others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01243.hp2 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0022a0002c0021others(10): Show | a0001c0002t0001a0001c0022t0001a0002c0021t0004others(10): Show | a0001c0002t0001g0083 a0001c0022t0001g0132 a0002c0021t0004g0128 others(12): Show |
15 | 127 | 0.1181 | 21 | c.864 others(40): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 55/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0044 | 1 | 42 | 0.0238 | 21 | c.590 others(40): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar |