view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(164): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18944.hp2 |
a0001a0002 | a0001c0016a0002c0005 | a0001c0016t0001a0002c0005t0001 | a0001c0016t0001g0038a0002c0005t0001g0207 | 2 | 440 | 0.0046 | 171 | c.319 others(186): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(164): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0036 | 1 | 440 | 0.0023 | 171 | c.319 others(186): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(164): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0241a0001c0004t0001g0242 | 2 | 440 | 0.0046 | 171 | c.319 others(186): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931712 | A | AGAAAGAA others(164): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 1 | 440 | 0.0023 | 171 | c.319 others(186): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931716 | A | AGAAAGAC others(164): Show |
intron_variant | MODIFIER | HG01981.hp1 HG01993.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0131a0002c0007t0001g0132 | 2 | 440 | 0.0046 | 171 | c.319 others(186): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848174 | A | AAGAAGAA others(164): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0321 | 1 | 388 | 0.0026 | 171 | c.-79 others(180): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 422 | chr7 | TogoVar | |||||||
NOS3_chr7_150986017_151019588 | 150995593 | C | CCCCCATC others(164): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0013 | a0013c0026 | a0013c0026t0001 | a0013c0026t0001g0269 | 1 | 382 | 0.0026 | 171 | c.270 others(186): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 81690 | A | ACCCCTTC others(164): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 350 | 0.0029 | 171 | c.*50 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3695 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81747 | A | ACCCCTTC others(164): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0308 | 1 | 350 | 0.0029 | 171 | c.*49 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3638 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81837 | G | GCCTCCTG others(164): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 350 | 0.0029 | 171 | c.*48 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3548 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81861 | A | ACCCCTTC others(164): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02976.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0028 | 3 | 350 | 0.0086 | 171 | c.*48 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3524 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81918 | A | ACCCCTTC others(164): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 350 | 0.0029 | 171 | c.*47 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3467 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81940 | C | CCTCCGGG others(164): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0135 | 1 | 350 | 0.0029 | 171 | c.*47 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3445 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81971 | G | GCTGGCCC others(164): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 350 | 0.0029 | 171 | c.*47 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3414 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82168 | T | TCTCCGGG others(164): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192a0001c0001t0002g0258 | 2 | 350 | 0.0057 | 171 | c.*45 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3217 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82168 | T | TCTCCGGG others(164): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 350 | 0.0029 | 171 | c.*45 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3217 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82179 | C | CCCTCCTG others(164): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 350 | 0.0029 | 171 | c.*45 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3206 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82179 | C | CCCTCCTG others(164): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01515.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0050a0001c0005t0001g0063 | 2 | 350 | 0.0057 | 171 | c.*45 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3206 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82203 | A | ACCCCTTC others(164): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 350 | 0.0029 | 171 | c.*45 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3182 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCA others(164): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 350 | 0.0029 | 171 | c.*44 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCA others(164): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 350 | 0.0029 | 171 | c.*44 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCA others(164): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0076 | 2 | 350 | 0.0057 | 171 | c.*44 others(182): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar | |||||||
NR6A1_chr9_124512275_124776311 | 124584302 | T | TCAACACT others(164): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0001 | 1 | 234 | 0.0043 | 171 | c.143 others(190): Show |
NR6A1 | ENSG00000148200.17 | transcript | ENST00000487099.7 | protein_coding | 2/9 | chr9 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56808256 | T | TATATAGT others(164): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 378 | 0.0027 | 171 | c.489 others(188): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 940979 | T | TGCAGCCA others(164): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02698.hp1 NA18980.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0005 | a0001c0001t0002g0026a0001c0001t0002g0104a0001c0001t0002g0213others(1): Show | 4 | 242 | 0.0165 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 941492 | T | TGCAGCCA others(164): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 242 | 0.0041 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 941606 | T | TGCAGCCA others(164): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00733.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0060a0001c0001t0001g0064a0001c0001t0001g0086others(23): Show | 26 | 242 | 0.1074 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 942658 | T | TCCTGGAT others(164): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00733.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0060a0001c0001t0001g0064a0001c0001t0001g0135others(20): Show | 23 | 242 | 0.0950 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 942658 | T | TCCTGGAT others(164): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109 | 1 | 242 | 0.0041 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 942802 | G | GTGCAGCC others(164): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 242 | 0.0041 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 942822 | C | CACACCTT others(164): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 242 | 0.0041 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 942943 | T | TCCTGGAT others(164): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 242 | 0.0041 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 942953 | A | ACAGTGAA others(164): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 242 | 0.0041 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 943019 | A | AAGATTCC others(164): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 242 | 0.0041 | 171 | c.360 others(190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78659308 | A | AAGAAAGA others(164): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 296 | 0.0034 | 171 | c.-18 others(180): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 154 | chr13 | TogoVar | |||||||
OR2T12_chr1_248285139_248308424 | 248306763 | G | GCCTGAGG others(164): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG04115.hp1 |
a0001a0020 | a0001c0001a0020c0022 | a0001c0001t0001a0020c0022t0001 | a0001c0001t0001g0036a0020c0022t0001g0090 | 2 | 406 | 0.0049 | 171 | c.-36 others(182): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3340 | chr1 | TogoVar | |||||||
OR2T12_chr1_248285139_248308424 | 248306763 | G | GCCTGAGG others(164): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01952.hp2 HG02027.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0034 | a0002c0002t0002g0002a0002c0002t0002g0004a0002c0002t0034g0076 | 8 | 406 | 0.0197 | 171 | c.-36 others(182): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3340 | chr1 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(164): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 186 | 0.0054 | 171 | c.537 others(190): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83951914 | C | CCCCTTTC others(164): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0199 | 1 | 350 | 0.0029 | 171 | c.-14 others(182): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1325 | chr16 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 42981480 | C | CGGGGGGG others(164): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0254a0001c0001t0006g0252 | 2 | 294 | 0.0068 | 171 | c.-78 others(190): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PAPLN_chr14_73232506_73279623 | 73263987 | A | AGCCCCCC others(164): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0194 | 1 | 418 | 0.0024 | 171 | c.286 others(188): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562909 | G | GGGGGGGC others(164): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 221 | 0.0045 | 171 | c.-95 others(180): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 765 | chrX | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562916 | C | CGGGGGGT others(164): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 221 | 0.0045 | 171 | c.-95 others(180): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 758 | chrX | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCGGCCCA others(164): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 292 | 0.0034 | 171 | c.471 others(186): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909801 | A | ACCCACTG others(164): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 292 | 0.0034 | 171 | c.471 others(186): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 744727 | G | GCCGTGGA others(164): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0092 | 1 | 366 | 0.0027 | 171 | c.462 others(184): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 745991 | G | GTGAGCAG others(164): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0090a0001c0001t0006g0098 | 2 | 366 | 0.0055 | 171 | c.462 others(188): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 510628 | C | CAGGGCTC others(164): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0133 | 1 | 302 | 0.0033 | 171 | c.453 others(186): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GGCGGGGG others(164): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 358 | 0.0028 | 171 | c.143 others(186): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(164): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 426 | 0.0024 | 171 | c.*48 others(182): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar |