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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLVAP_chr19_17346455_17382342 | 17382276 | A | AAGAAAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA18962.hp1 NA18981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0002g0025 others(1): Show |
4 | 436 | 0.0092 | 26 | c.-49 others(37): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4935 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17382280 | A | AAAAAAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 436 | 0.0023 | 26 | c.-49 others(37): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4939 | chr19 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128087 | C | CTATGTAT others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0200 | 1 | 320 | 0.0031 | 26 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128087 | C | CTATGTAT others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00621.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0001g0167 a0001c0001t0001g0227 a0001c0001t0003g0171 others(34): Show |
37 | 320 | 0.1156 | 26 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128087 | C | CTATGTGT others(19): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01256.hp1 HG01257.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0211 others(1): Show |
4 | 320 | 0.0125 | 26 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128117 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 a0001c0001t0003g0260 a0001c0001t0003g0261 |
3 | 320 | 0.0094 | 26 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128117 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 320 | 0.0031 | 26 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 19883884 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02886.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0030a0002c0002t0006 | a0001c0001t0001g0152 a0001c0001t0030g0001 a0002c0002t0006g0151 |
3 | 180 | 0.0167 | 26 | c.112 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126332 | C | CGTTATAT others(19): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02965.hp2 HG02970.hp2 others(1): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0006 | a0001c0001t0038a0001c0001t0055a0004c0004t0039others(1): Show | a0001c0001t0038g0153 a0001c0001t0055g0024 a0004c0004t0039g0134 others(1): Show |
4 | 180 | 0.0222 | 26 | c.542 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126689 | A | AACACACG others(19): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0063 | a0002c0002t0063g0165 | 1 | 180 | 0.0056 | 26 | c.542 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126742 | A | ACACACGT others(19): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 180 | 0.0056 | 26 | c.542 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATGTA others(19): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0046 | 1 | 180 | 0.0056 | 26 | c.131 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20284330 | T | TATATATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0169 | 1 | 180 | 0.0056 | 26 | c.*45 others(37): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 14/14 | 4513 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA2_chr1_208017242_208249384 | 208209983 | A | AATTTTTT others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(5): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0021others(5): Show | a0001c0001t0005g0102 a0001c0001t0006g0099 a0001c0001t0021g0260 others(5): Show |
8 | 312 | 0.0256 | 26 | c.137 others(43): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0041 | 1 | 88 | 0.0114 | 26 | c.137 others(47): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94177163 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18981.hp2 NA19010.hp2 NA19070.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 |
3 | 298 | 0.0101 | 26 | c.120 others(45): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94274155 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19030.hp2 |
a0001a0002 | a0001c0008a0002c0022 | a0001c0008t0003a0002c0022t0002 | a0001c0008t0003g0237 a0002c0022t0002g0015 |
2 | 298 | 0.0067 | 26 | c.359 others(45): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLXND1_chr3_129550214_129611676 | 129581990 | G | GGAGCAGG others(19): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0038 | a0038c0034 | a0038c0034t0003 | a0038c0034t0003g0210 | 1 | 416 | 0.0024 | 26 | c.224 others(45): Show |
PLXND1 | ENSG00000004399.13 | transcript | ENST00000324093.9 | protein_coding | 8/35 | chr3 | TogoVar | |||||||
PLXND1_chr3_129550214_129611676 | 129595921 | G | GCGCGCAC others(19): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0108 | 1 | 416 | 0.0024 | 26 | c.131 others(45): Show |
PLXND1 | ENSG00000004399.13 | transcript | ENST00000324093.9 | protein_coding | 1/35 | chr3 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853432 | C | CATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0017 | a0017c0025 | a0017c0025t0002 | a0017c0025t0002g0051 | 1 | 416 | 0.0024 | 26 | c.-33 others(37): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3301 | chr1 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853436 | A | AATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01070.hp2 others(12): Show |
a0002a0004a0009others(2): Show | a0002c0001a0004c0004a0009c0011others(2): Show | a0002c0001t0001a0002c0001t0002a0004c0004t0002others(3): Show | a0002c0001t0001g0156 a0002c0001t0002g0001 a0002c0001t0002g0175 others(9): Show |
15 | 416 | 0.0361 | 26 | c.-33 others(37): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8827891 | T | TATATAAT others(19): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 408 | 0.0025 | 26 | c.639 others(45): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PMM2_chr16_8792839_8854325 | 8851977 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 408 | 0.0025 | 26 | c.*41 others(37): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2653 | chr16 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189860839 | T | TTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 234 | 0.0043 | 26 | c.185 others(45): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAATA others(19): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0008 | a0003c0008t0046 | a0003c0008t0046g0343 | 1 | 408 | 0.0025 | 26 | c.-95 others(35): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218315038 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02027.hp1 HG03471.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0002 | a0001c0001t0001g0084 a0001c0001t0003g0080 a0001c0001t0003g0083 others(4): Show |
7 | 280 | 0.0250 | 26 | c.237 others(45): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNMA8A_chr19_46461503_46476563 | 46475170 | C | CAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 NA18939.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0001 a0001c0002t0003g0002 a0001c0002t0003g0040 |
6 | 454 | 0.0132 | 26 | c.-39 others(37): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 3608 | chr19 | TogoVar | |||||||
PNOC_chr8_28312268_28348351 | 28330400 | T | TATTTTAT others(19): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0354 a0001c0001t0003g0322 |
2 | 424 | 0.0047 | 26 | c.126 others(43): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
PNPLA1_chr6_36265060_36318955 | 36282088 | A | AGAAAGAA others(19): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0113 | 1 | 386 | 0.0026 | 26 | c.206 others(43): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282088 | A | AGAAAGAA others(19): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0016 | a0006c0016t0004 | a0006c0016t0004g0137 | 1 | 386 | 0.0026 | 26 | c.206 others(43): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300161 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18983.hp2 |
a0003a0004 | a0003c0004a0004c0008 | a0003c0004t0001a0004c0008t0003 | a0003c0004t0001g0294 a0004c0008t0003g0334 |
2 | 386 | 0.0052 | 26 | c.776 others(43): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGAG others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 386 | 0.0026 | 26 | c.776 others(43): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp2 HG01243.hp2 others(8): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0024 a0001c0001t0002g0047 a0001c0001t0002g0126 others(8): Show |
11 | 386 | 0.0285 | 26 | c.776 others(43): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502820 | G | GGCCATTT others(19): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0035 | a0035c0056 | a0035c0056t0001 | a0035c0056t0001g0009 | 1 | 188 | 0.0053 | 26 | c.147 others(45): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137503789 | A | AAAAGAAG others(19): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 188 | 0.0053 | 26 | c.147 others(45): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PODXL2_chr3_127624185_127677802 | 127673149 | A | ACGGGCGG others(19): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 402 | 0.0025 | 26 | c.*66 others(35): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 348 | chr3 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499777 | T | TTGTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02071.hp1 HG02896.hp1 |
a0001a0003a0005 | a0001c0012a0003c0005a0005c0004 | a0001c0012t0008a0003c0005t0003a0005c0004t0003 | a0001c0012t0008g0013 a0003c0005t0003g0328 a0005c0004t0003g0407 |
3 | 440 | 0.0068 | 26 | c.*45 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 493 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499780 | C | CATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 NA18975.hp1 |
a0005a0008 | a0005c0004a0008c0018 | a0005c0004t0001a0008c0018t0001 | a0005c0004t0001g0348 a0008c0018t0001g0032 |
2 | 440 | 0.0046 | 26 | c.*45 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0419 | 1 | 440 | 0.0023 | 26 | c.101 others(45): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACAGA others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(15): Show |
a0002a0003a0004others(1): Show | a0002c0001a0003c0005a0004c0002others(4): Show | a0002c0001t0001a0003c0005t0002a0004c0002t0001others(8): Show | a0002c0001t0001g0074 a0002c0001t0001g0089 a0002c0001t0001g0147 others(15): Show |
18 | 440 | 0.0409 | 26 | c.101 others(45): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACAGAGA others(19): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01496.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0012a0002c0001others(4): Show | a0001c0003t0002a0001c0012t0001a0002c0001t0003others(4): Show | a0001c0003t0002g0189 a0001c0003t0002g0191 a0001c0003t0002g0222 others(10): Show |
13 | 440 | 0.0296 | 26 | c.101 others(45): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG01168.hp2 NA20905.hp1 |
a0004a0006 | a0004c0002a0006c0011 | a0004c0002t0001a0006c0011t0002 | a0004c0002t0001g0254 a0006c0011t0002g0072 |
2 | 440 | 0.0046 | 26 | c.101 others(45): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG03139.hp2 |
a0003 | a0003c0019a0003c0027a0003c0028 | a0003c0019t0006a0003c0027t0007a0003c0028t0009 | a0003c0019t0006g0055 a0003c0027t0007g0053 a0003c0028t0009g0048 |
3 | 440 | 0.0068 | 26 | c.-21 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0027 | a0003c0027t0007 | a0003c0027t0007g0047 | 1 | 440 | 0.0023 | 26 | c.-21 others(37): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119468586 | T | TACACACA others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 422 | 0.0024 | 26 | c.-43 others(35): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 376 | chr3 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24801916 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 197 | 0.0051 | 26 | c.296 others(45): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24801920 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0083 |
2 | 197 | 0.0102 | 26 | c.296 others(45): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24801924 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 197 | 0.0051 | 26 | c.296 others(45): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLD1_chr19_50379347_50423014 | 50400211 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03486.hp2 |
a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0039 a0003c0012t0001g0043 |
2 | 336 | 0.0060 | 26 | c.316 others(41): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609345 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 | 1 | 400 | 0.0025 | 26 | c.220 others(43): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |