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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIR_chrX_15379799_15498333 | 15433650 | A | AGAGGAAG others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00741.hp1 others(30): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0050 others(30): Show |
33 | 174 | 0.1897 | 23 | c.481 others(40): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15434086 | A | AAAGGAGG others(16): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 270 | 0.0037 | 23 | c.481 others(40): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15486298 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01069.hp1 others(38): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 others(36): Show |
41 | 73 | 0.5616 | 23 | c.96+ others(38): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67522659 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0087 a0001c0001t0004g0161 |
2 | 50 | 0.0400 | 23 | c.49- others(40): 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(16): Show |
intron_variant | MODIFIER | HG01192.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0210 a0001c0001t0021g0026 |
2 | 146 | 0.0137 | 23 | c.366 others(42): 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(16): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0126 | 1 | 145 | 0.0069 | 23 | c.366 others(42): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599035 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 192 | 0.0052 | 23 | c.366 others(42): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631645 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 183 | 0.0055 | 23 | c.367 others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631647 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01261.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0079 a0001c0001t0001g0117 a0001c0001t0001g0212 others(3): Show |
6 | 155 | 0.0387 | 23 | c.367 others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631653 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0110 | 1 | 106 | 0.0094 | 23 | c.367 others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631657 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 12 | 0.0833 | 23 | c.367 others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG02148.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(6): Show | a0001c0001t0002g0084 a0001c0001t0007g0101 a0001c0001t0007g0105 others(10): Show |
13 | 55 | 0.2364 | 23 | c.683 others(40): 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(16): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02735.hp2 NA18993.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0005t0002g0262 |
3 | 9 | 0.3333 | 23 | c.-18 others(34): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PITX3_chr10_102225189_102246512 | 102241614 | C | CTGGGGCT others(16): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | 23 | c.-29 others(32): Show |
PITX3 | ENSG00000107859.11 | transcript | ENST00000370002.8 | protein_coding | 103 | chr10 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24760780 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01361.hp1 NA18940.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0022 | a0001c0001t0001a0001c0006t0001a0001c0022t0001 | a0001c0001t0001g0295 a0001c0001t0001g0310 a0001c0006t0001g0241 others(1): Show |
4 | 149 | 0.0268 | 23 | c.103 others(38): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109343273 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0342 | 1 | 325 | 0.0031 | 23 | 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(16): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG02523.hp2 others(7): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0016 a0002c0002t0001g0131 a0002c0002t0001g0138 others(7): Show |
10 | 35 | 0.2857 | 23 | c.128 others(42): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372923 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273 | 1 | 328 | 0.0030 | 23 | c.128 others(42): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PJVK_chr2_178446378_178467102 | 178461584 | C | CTTTTTTT others(16): Show |
3_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0032 | 1 | 178 | 0.0056 | 23 | c.*32 others(32): Show |
PJVK | ENSG00000204311.15 | transcript | ENST00000644580.2 | protein_coding | 7/7 | 329 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PKD2L1_chr10_100283149_100335228 | 100306855 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02109.hp1 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0201 a0004c0005t0001g0215 a0004c0005t0001g0218 others(4): Show |
7 | 110 | 0.0636 | 23 | c.350 others(40): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321756 | A | AAGAAGGG others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 135 | 0.0074 | 23 | c.349 others(40): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
a0007a0011a0015others(2): Show | a0007c0007a0011c0010a0015c0013others(2): Show | a0007c0007t0006a0011c0010t0006a0015c0013t0012others(2): Show | a0007c0007t0006g0013 a0007c0007t0006g0014 a0007c0007t0006g0019 others(6): Show |
9 | 63 | 0.1429 | 23 | c.208 others(40): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109501083 | C | CCTTTGGT others(16): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
a0010a0026a0046others(1): Show | a0010c0011a0026c0016a0046c0061others(1): Show | a0010c0011t0008a0010c0011t0044a0026c0016t0008others(2): Show | a0010c0011t0008g0004 a0010c0011t0008g0107 a0010c0011t0008g0109 others(5): Show |
8 | 280 | 0.0286 | 23 | c.108 others(44): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKLR_chr1_155284293_155306438 | 155301894 | T | TCGCCTAC others(16): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 310 | 0.0065 | 23 | c.-50 others(32): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 457 | chr1 | TogoVar | |||||||
PKN3_chr9_128697503_128725916 | 128717117 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01243.hp2 others(14): Show |
a0001a0009a0012 | a0001c0001a0009c0015a0012c0019 | a0001c0001t0001a0009c0015t0001a0012c0019t0001 | a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0051 others(10): Show |
17 | 28 | 0.6071 | 23 | c.198 others(40): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PKN3_chr9_128697503_128725916 | 128717123 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 358 | 0.0028 | 23 | c.198 others(40): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0159 | 1 | 196 | 0.0051 | 23 | c.-57 others(42): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 196 | 0.0051 | 23 | c.-57 others(42): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | chr21 | TogoVar | |||||||
PKNOX2_chr11_125159751_125438389 | 125315303 | G | GAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 116 | 0.0086 | 23 | c.-12 others(44): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32806686 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 227 | 0.0044 | 23 | c.201 others(42): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32846745 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 237 | 0.0042 | 23 | c.137 others(42): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401971 | G | GCCCCGCT others(16): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0114 | 1 | 202 | 0.0050 | 23 | c.173 others(42): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402045 | C | CGCTCACC others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01256.hp1 others(11): Show |
a0001a0010 | a0001c0002a0001c0003a0001c0016others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0016t0001others(1): Show | a0001c0002t0001g0110 a0001c0002t0001g0132 a0001c0002t0001g0164 others(11): Show |
14 | 204 | 0.0686 | 23 | c.173 others(42): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402115 | C | CGCTCACC others(16): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02897.hp2 |
a0001a0006 | a0001c0002a0006c0031 | a0001c0002t0001a0006c0031t0001 | a0001c0002t0001g0172 a0006c0031t0001g0163 |
2 | 204 | 0.0098 | 23 | c.173 others(40): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402343 | G | GCCCCGCT others(16): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 195 | 0.0051 | 23 | c.173 others(40): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402606 | G | GCCCCGCT others(16): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0115 | 1 | 204 | 0.0049 | 23 | c.173 others(40): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402659 | G | GCCCCGCT others(16): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0019 | a0019c0032 | a0019c0032t0001 | a0019c0032t0001g0144 | 1 | 160 | 0.0063 | 23 | c.173 others(40): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402659 | G | GCCCCGCT others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00642.hp2 others(44): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0003a0001c0010others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(7): Show | a0001c0002t0001g0004 a0001c0002t0001g0100 a0001c0002t0001g0104 others(43): Show |
47 | 206 | 0.2282 | 23 | c.173 others(40): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PLA2G4A_chr1_186823949_186993981 | 186857128 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0006a0001c0011 | a0001c0001t0001a0001c0006t0001a0001c0011t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(14): Show |
17 | 306 | 0.0556 | 23 | c.33+ others(38): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48057480 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0013 | a0002c0013t0004 | a0002c0013t0004g0086 | 1 | 86 | 0.0116 | 23 | c.125 others(42): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 14/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105943 | C | CTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0010 | a0010c0053 | a0010c0053t0006 | a0010c0053t0006g0293 | 1 | 190 | 0.0053 | 23 | c.9-5 others(34): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4E_chr15_41976582_42026042 | 42002264 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0018 | a0005c0018t0005 | a0005c0018t0005g0176 | 1 | 129 | 0.0078 | 23 | c.522 others(38): Show |
PLA2G4E | ENSG00000188089.14 | transcript | ENST00000696112.1 | protein_coding | 6/19 | chr15 | TogoVar | |||||||
PLA2R1_chr2_159927006_160067615 | 159935945 | A | ATTTTTTT others(16): Show |
3_prime_UTR_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0207 | 1 | 25 | 0.0400 | 23 | c.*58 others(34): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 30/30 | 5832 | chr2 | TogoVar | ||||||
PLAAT3_chr11_63569462_63619433 | 63619037 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0155 a0001c0001t0003g0164 |
2 | 291 | 0.0069 | 23 | c.-47 others(34): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 4605 | chr11 | TogoVar | |||||||
PLAC8_chr4_83085048_83119729 | 83089797 | T | TACTCTGA others(16): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 406 | 0.0025 | 23 | c.*11 others(34): Show |
PLAC8 | ENSG00000145287.11 | transcript | ENST00000311507.9 | protein_coding | 250 | chr4 | TogoVar | |||||||
PLAC8_chr4_83085048_83119729 | 83089806 | A | AAGAGTTT others(16): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 NA18971.hp2 NA19012.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0076 a0001c0001t0001g0077 |
4 | 406 | 0.0099 | 23 | c.*11 others(34): Show |
PLAC8 | ENSG00000145287.11 | transcript | ENST00000311507.9 | protein_coding | 241 | chr4 | TogoVar | |||||||
PLB1_chr2_28491060_28649142 | 28554489 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02071.hp2 HG04199.hp1 NA19077.hp2 |
a0001a0002a0008 | a0001c0002a0002c0001a0008c0012 | a0001c0002t0001a0002c0001t0002a0008c0012t0001 | a0001c0002t0001g0176 a0002c0001t0002g0179 a0008c0012t0001g0157 |
3 | 37 | 0.0811 | 23 | c.114 others(42): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLB1_chr2_28491060_28649142 | 28562540 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp2 others(3): Show |
a0001a0002a0004 | a0001c0004a0001c0053a0002c0001others(2): Show | a0001c0004t0001a0001c0053t0004a0002c0001t0002others(2): Show | a0001c0004t0001g0083 a0001c0053t0004g0079 a0002c0001t0002g0254 others(3): Show |
6 | 44 | 0.1364 | 23 | c.114 others(40): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8623197 | T | TGACTGCT others(16): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 106 | 0.0094 | 23 | c.247 others(40): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB3_chr11_64246530_64272923 | 64257016 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01081.hp1 others(8): Show |
a0001a0007 | a0001c0004a0007c0012 | a0001c0004t0001a0001c0004t0002a0007c0012t0002 | a0001c0004t0001g0007 a0001c0004t0002g0003 a0001c0004t0002g0064 others(2): Show |
11 | 306 | 0.0359 | 23 | c.101 others(40): Show |
PLCB3 | ENSG00000149782.13 | transcript | ENST00000279230.12 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |