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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIEZO2_chr18_10665247_11154569 | 10720234 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02273.hp1 HG02717.hp2 others(1): Show |
a0001a0002a0016others(1): Show | a0001c0028a0002c0001a0016c0020others(1): Show | a0001c0028t0001a0002c0001t0001a0016c0020t0002others(1): Show | a0001c0028t0001g0031a0002c0001t0001g0057a0016c0020t0002g0114others(1): Show | 4 | 158 | 0.0253 | 34 | c.503 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10886323 | C | CATACATA others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01106.hp2 others(21): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0006a0001c0028others(19): Show | a0001c0002t0001a0001c0006t0001a0001c0028t0001others(19): Show | a0001c0002t0001g0155a0001c0006t0001g0099a0001c0006t0001g0138others(21): Show | 24 | 158 | 0.1519 | 34 | c.330 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10886343 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0091 | 1 | 158 | 0.0063 | 34 | c.330 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10886343 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG03041.hp1 NA20300.hp1 |
a0004a0014 | a0004c0022a0014c0083 | a0004c0022t0002a0014c0083t0002 | a0004c0022t0002g0085a0014c0083t0002g0132 | 2 | 158 | 0.0127 | 34 | c.330 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10886343 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0054 | a0008c0054t0001 | a0008c0054t0001g0077 | 1 | 158 | 0.0063 | 34 | c.330 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10886353 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 |
a0001a0018 | a0001c0065a0018c0030 | a0001c0065t0002a0018c0030t0001 | a0001c0065t0002g0003a0018c0030t0001g0079 | 2 | 158 | 0.0127 | 34 | c.330 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10886384 | A | ATATATAC others(27): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18998.hp1 |
a0013a0015 | a0013c0027a0015c0025 | a0013c0027t0002a0015c0025t0001 | a0013c0027t0002g0048a0015c0025t0001g0082 | 2 | 158 | 0.0127 | 34 | c.330 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG03516.hp2 |
a0002a0011 | a0002c0001a0011c0060 | a0002c0001t0002a0011c0060t0003 | a0002c0001t0002g0040a0002c0001t0002g0146a0011c0060t0003g0078 | 3 | 158 | 0.0190 | 34 | c.330 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01517.hp2 HG02486.hp1 |
a0002a0003 | a0002c0001a0002c0072a0003c0011 | a0002c0001t0001a0002c0072t0001a0003c0011t0001 | a0002c0001t0001g0063a0002c0072t0001g0044a0003c0011t0001g0070 | 3 | 158 | 0.0190 | 34 | c.330 others(53): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
PIGG_chr4_494210_545200 | 507919 | G | GTTCTGTG others(27): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 362 | 0.0028 | 34 | c.759 others(49): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PIGL_chr17_16212210_16331411 | 16219580 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 246 | 0.0041 | 34 | c.235 others(51): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGN_chr18_62036164_62192056 | 62125095 | T | TATAAATA others(27): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0107 | a0001c0009t0107g0197 | 1 | 342 | 0.0029 | 34 | c.117 others(55): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 14/30 | chr18 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | 34 | c.*18 others(43): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 NA19003.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0115 | 3 | 384 | 0.0078 | 34 | c.*18 others(43): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG02165.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0017others(1): Show | 5 | 384 | 0.0130 | 34 | c.*18 others(43): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAATA others(27): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 384 | 0.0026 | 34 | c.*18 others(43): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIK3AP1_chr10_96588315_96725514 | 96628873 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 256 | 0.0039 | 34 | c.137 others(51): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 8/16 | chr10 | TogoVar | ||||||
PIK3C3_chr18_41950234_42092830 | 42076161 | T | TATGCACA others(27): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0122 | 1 | 340 | 0.0029 | 34 | c.265 others(53): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 24/24 | chr18 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 318 | 0.0031 | 34 | c.315 others(51): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 318 | 0.0031 | 34 | c.315 others(51): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PINX1_chr8_10759961_10844875 | 10833578 | A | AATGACAA others(27): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0323a0002c0002t0001g0324 | 2 | 352 | 0.0057 | 34 | c.130 others(49): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
PIP5K1A_chr1_151193552_151254531 | 151251260 | C | CAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 334 | 0.0030 | 34 | c.*33 others(45): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 1730 | chr1 | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15483174 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03453.hp2 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0003 | a0001c0001t0001g0102a0006c0007t0003g0027 | 2 | 272 | 0.0074 | 34 | c.97- others(49): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG00741.hp1 NA19056.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0026 | a0001c0001t0001g0187a0001c0001t0010g0135a0001c0001t0026g0203 | 3 | 218 | 0.0138 | 34 | c.49- others(51): 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(27): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 218 | 0.0046 | 34 | c.49- others(51): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67629238 | C | CTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 218 | 0.0046 | 34 | c.367 others(51): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0154a0001c0001t0003g0014 | 2 | 218 | 0.0092 | 34 | c.683 others(51): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNM3_chr17_6446263_6561555 | 6491836 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18984.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0052a0001c0003t0001 | a0001c0002t0052g0003a0001c0003t0001g0214 | 2 | 218 | 0.0092 | 34 | c.275 others(51): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4/19 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6557784 | G | GTGCTGGC others(27): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 218 | 0.0046 | 34 | c.-13 others(45): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 1230 | chr17 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(27): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG02015.hp2 NA20129.hp1 |
a0001a0005 | a0001c0001a0001c0030a0005c0007 | a0001c0001t0001a0001c0030t0001a0005c0007t0001 | a0001c0001t0001g0016a0001c0030t0001g0038a0005c0007t0001g0329 | 3 | 446 | 0.0067 | 34 | c.-18 others(45): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22349419 | G | GTATGTAT others(27): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0184 | 1 | 296 | 0.0034 | 34 | c.240 others(53): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PIWIL3_chr22_24714034_24779720 | 24757671 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0015 | a0015c0038 | a0015c0038t0005 | a0015c0038t0005g0374 | 1 | 386 | 0.0026 | 34 | c.355 others(49): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24760780 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 386 | 0.0026 | 34 | c.103 others(49): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24764625 | C | CGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 386 | 0.0026 | 34 | c.-22 others(51): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 1/20 | chr22 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109341472 | C | CTCCGCCC others(27): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0308 | 1 | 346 | 0.0029 | 34 | c.200 others(53): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353640 | T | TATCTATA others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00639.hp1 others(63): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0194a0001c0001t0001g0198a0001c0001t0001g0201others(63): Show | 66 | 346 | 0.1908 | 34 | c.176 others(53): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353751 | A | ATCTATGA others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01978.hp1 HG01981.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141a0002c0002t0001g0144a0002c0002t0001g0146others(5): Show | 8 | 346 | 0.0231 | 34 | c.176 others(53): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353920 | T | TGTCTATG others(27): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0118 | 1 | 346 | 0.0029 | 34 | c.176 others(53): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353989 | A | AGATATCT others(27): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18947.hp2 NA19080.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145a0002c0002t0001g0160a0002c0002t0001g0167others(1): Show | 4 | 346 | 0.0116 | 34 | c.176 others(53): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354102 | A | ATCTATAG others(27): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 346 | 0.0029 | 34 | c.176 others(53): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354262 | G | GTCTAGAG others(27): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0324 | 1 | 346 | 0.0029 | 34 | c.176 others(53): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 346 | 0.0029 | 34 | c.128 others(53): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2087923 | T | TCCCTGCA others(27): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0009 | a0009c0016 | a0009c0016t0008 | a0009c0016t0008g0003 | 1 | 216 | 0.0046 | 34 | c.*17 others(45): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 784 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2091203 | A | AGGGACGC others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(127): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0003a0001c0006others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0047others(127): Show | 130 | 216 | 0.6019 | 34 | c.117 others(51): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 42/45 | chr16 | TogoVar | ||||||
PKD2_chr4_88002635_88082777 | 88078613 | C | CTCTTATT others(27): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 342 | 0.0029 | 34 | c.*29 others(45): Show |
PKD2 | ENSG00000118762.8 | transcript | ENST00000237596.7 | protein_coding | 837 | chr4 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109410720 | C | CTTTTCTT others(27): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 282 | 0.0036 | 34 | c.208 others(51): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1_chr6_51610299_52092613 | 52065168 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0007 | a0007c0003 | a0007c0003t0001 | a0007c0003t0001g0012 | 1 | 134 | 0.0075 | 34 | c.881 others(49): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 12/66 | chr6 | TogoVar | ||||||
PKIA_chr8_78511340_78610267 | 78602694 | A | AATACATA others(27): Show |
3_prime_UTR_variant | MODIFIER | HG02976.hp2 HG03130.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004a0001c0001t0006g0011 | 3 | 186 | 0.0161 | 34 | c.*87 others(43): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 4/4 | 877 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
PKIA_chr8_78511340_78610267 | 78602694 | A | AATATATA others(27): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020a0001c0001t0008g0021 | 2 | 186 | 0.0108 | 34 | c.*89 others(43): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 4/4 | 894 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
PKN1_chr19_14428306_14476859 | 14442065 | A | ATTTTTTT others(27): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0356 | 1 | 376 | 0.0027 | 34 | c.322 others(49): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |