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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POC5_chr5_75669124_75722437 | 75699038 | T | TAGACCAA others(13): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0041 | 1 | 380 | 0.0026 | 20 | c.513 others(37): Show |
POC5 | ENSG00000152359.15 | transcript | ENST00000428202.7 | protein_coding | 5/11 | chr5 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499777 | T | TTGTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02280.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0012a0004c0004others(1): Show | a0001c0001t0003a0002c0012t0003a0004c0004t0003others(1): Show | a0001c0001t0003g0086 a0001c0001t0003g0087 a0002c0012t0003g0307 others(2): Show |
5 | 440 | 0.0114 | 20 | c.*45 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 493 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499780 | C | CATATATA others(13): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 NA19002.hp2 |
a0007a0008 | a0007c0016a0008c0017 | a0007c0016t0001a0008c0017t0001 | a0007c0016t0001g0252 a0008c0017t0001g0071 |
2 | 440 | 0.0046 | 20 | c.*45 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499816 | T | TATATATA others(13): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0024 | a0024c0045 | a0024c0045t0001 | a0024c0045t0001g0169 | 1 | 440 | 0.0023 | 20 | c.*44 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 454 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 440 | 0.0023 | 20 | c.101 others(39): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACAGA others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02056.hp1 HG02129.hp1 others(8): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0003c0002t0001others(3): Show | a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0160 others(8): Show |
11 | 440 | 0.0250 | 20 | c.101 others(39): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACAGAGA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01515.hp1 HG01884.hp1 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(4): Show | a0001c0001t0002a0002c0003t0002a0003c0002t0008others(4): Show | a0001c0001t0002g0182 a0002c0003t0002g0230 a0003c0002t0008g0017 others(5): Show |
8 | 440 | 0.0182 | 20 | c.101 others(39): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0038 | 1 | 440 | 0.0023 | 20 | c.-21 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85360527 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0209 | 1 | 227 | 0.0044 | 20 | c.358 others(35): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85360527 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18995.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0011 | 2 | 227 | 0.0088 | 20 | c.358 others(35): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | |||||||
POFUT1_chr20_32202880_32243658 | 32240836 | A | ATTAATTA others(13): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 322 | 0.0031 | 20 | c.*61 others(31): Show |
POFUT1 | ENSG00000101346.15 | transcript | ENST00000375749.8 | protein_coding | 2179 | chr20 | TogoVar | |||||||
POFUT1_chr20_32202880_32243658 | 32240836 | A | ATTATTTA others(13): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00735.hp1 others(58): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(28): Show |
61 | 322 | 0.1894 | 20 | c.*61 others(31): Show |
POFUT1 | ENSG00000101346.15 | transcript | ENST00000375749.8 | protein_coding | 2179 | chr20 | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119468586 | T | TACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 422 | 0.0024 | 20 | c.-43 others(29): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 376 | chr3 | TogoVar | |||||||
POGZ_chr1_151397724_151464494 | 151398142 | G | GAAATCTG others(13): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 320 | 0.0031 | 20 | c.*66 others(31): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 4581 | chr1 | TogoVar | |||||||
POGZ_chr1_151397724_151464494 | 151419668 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0303 | 1 | 320 | 0.0031 | 20 | c.167 others(39): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 10/18 | chr1 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24801924 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02976.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0002g0141 a0001c0001t0002g0195 |
3 | 197 | 0.0152 | 20 | c.296 others(39): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24921892 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001 | a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0006t0001g0148 |
3 | 197 | 0.0152 | 20 | c.416 others(39): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24971931 | G | GATTTTAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02056.hp1 HG02074.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0061 others(5): Show |
8 | 197 | 0.0406 | 20 | c.426 others(41): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLB_chr8_42333494_42376808 | 42343369 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 314 | 0.0032 | 20 | c.120 others(37): Show |
POLB | ENSG00000070501.12 | transcript | ENST00000265421.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
POLD2_chr7_44109680_44128548 | 44124819 | T | TATATTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(8): Show |
75 | 418 | 0.1794 | 20 | c.-13 others(31): Show |
POLD2 | ENSG00000106628.13 | transcript | ENST00000610533.6 | protein_coding | 1272 | chr7 | TogoVar | |||||||
POLD3_chr11_74587582_74648076 | 74609345 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18993.hp2 NA19074.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0004g0056 |
3 | 400 | 0.0075 | 20 | c.220 others(37): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609372 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0299 |
3 | 400 | 0.0075 | 20 | c.220 others(37): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609372 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0238 | 1 | 400 | 0.0025 | 20 | c.220 others(37): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74632877 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02055.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0045 a0001c0002t0002g0243 a0001c0002t0002g0257 others(3): Show |
6 | 400 | 0.0150 | 20 | c.100 others(39): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 340 | 0.0029 | 20 | c.438 others(35): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325223 | A | AGAGTGAG others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 398 | 0.0025 | 20 | c.194 others(37): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325259 | T | TGAGTGAG others(13): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03927.hp1 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0005a0003c0005t0001 | a0002c0002t0005g0259 a0003c0005t0001g0202 |
2 | 398 | 0.0050 | 20 | c.194 others(37): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLH_chr6_43571185_43625523 | 43581667 | C | CCGGCGGT others(13): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 262 | 0.0038 | 20 | c.-4- others(33): Show |
POLH | ENSG00000170734.12 | transcript | ENST00000372236.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLH_chr6_43571185_43625523 | 43581669 | G | GGCGGTCG others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0038 | 1 | 262 | 0.0038 | 20 | c.-4- others(33): Show |
POLH | ENSG00000170734.12 | transcript | ENST00000372236.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLH_chr6_43571185_43625523 | 43581669 | G | GGTGGTCG others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0004 | a0004c0004 | a0004c0004t0014 | a0004c0004t0014g0071 | 1 | 262 | 0.0038 | 20 | c.-4- others(33): Show |
POLH | ENSG00000170734.12 | transcript | ENST00000372236.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLH_chr6_43571185_43625523 | 43581683 | G | GGCGGCTG others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01081.hp2 others(75): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0004a0001c0001t0029a0001c0001t0069others(32): Show | a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 others(69): Show |
78 | 262 | 0.2977 | 20 | c.-4- others(33): Show |
POLH | ENSG00000170734.12 | transcript | ENST00000372236.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLK_chr5_75506891_75614991 | 75595248 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0052a0001c0003t0032 | a0001c0001t0009g0224 a0001c0001t0052g0225 a0001c0003t0032g0188 |
3 | 356 | 0.0084 | 20 | c.152 others(37): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POLK_chr5_75506891_75614991 | 75612322 | C | CCCCCCCC others(13): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 HG02056.hp2 HG02132.hp1 others(1): Show |
a0002a0004 | a0002c0004a0004c0005 | a0002c0004t0012a0004c0005t0012 | a0002c0004t0012g0343 a0002c0004t0012g0346 a0002c0004t0012g0348 others(1): Show |
4 | 356 | 0.0112 | 20 | c.*14 others(33): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 2332 | chr5 | TogoVar | |||||||
POLK_chr5_75506891_75614991 | 75612350 | T | TCCGCCCC others(13): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020a0001c0001t0030others(3): Show | a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 others(12): Show |
15 | 356 | 0.0421 | 20 | c.*14 others(33): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 2360 | chr5 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2244069 | G | GAGACAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02257.hp1 HG02647.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0076 a0001c0003t0001g0082 a0001c0003t0001g0083 |
3 | 194 | 0.0155 | 20 | c.-23 others(31): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 1949 | chr4 | TogoVar | |||||||
POLQ_chr3_121426431_121550988 | 121522284 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02818.hp1 NA18970.hp1 |
a0001a0003a0031 | a0001c0001a0003c0002a0031c0037 | a0001c0001t0001a0003c0002t0001a0031c0037t0001 | a0001c0001t0001g0210 a0003c0002t0001g0299 a0031c0037t0001g0154 |
3 | 318 | 0.0094 | 20 | c.110 others(37): Show |
POLQ | ENSG00000051341.15 | transcript | ENST00000264233.6 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
POLR1A_chr2_86015216_86110886 | 86018997 | T | TGGGGCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02486.hp2 others(4): Show |
a0008a0012 | a0008c0008a0012c0029 | a0008c0008t0015a0008c0008t0064a0012c0029t0063 | a0008c0008t0015g0052 a0008c0008t0015g0053 a0008c0008t0015g0055 others(4): Show |
7 | 340 | 0.0206 | 20 | c.*84 others(31): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 1218 | chr2 | TogoVar | |||||||
POLR1A_chr2_86015216_86110886 | 86071227 | C | CGTGTGCG others(13): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0137 | 1 | 340 | 0.0029 | 20 | c.161 others(37): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 12/33 | chr2 | TogoVar | |||||||
POLR1G_chr19_45401644_45415737 | 45408062 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01256.hp2 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0008 a0001c0001t0025g0008 |
4 | 406 | 0.0099 | 20 | c.165 others(33): Show |
POLR1G | ENSG00000117877.11 | transcript | ENST00000309424.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
POLR1G_chr19_45401644_45415737 | 45410565 | T | TTGTGTGT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01928.hp2 HG02615.hp2 others(2): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0019a0004c0004t0110 | a0003c0003t0019g0001 a0004c0004t0110g0001 |
5 | 406 | 0.0123 | 20 | c.*10 others(31): Show |
POLR1G | ENSG00000117877.11 | transcript | ENST00000309424.8 | protein_coding | 3/3 | 1097 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
POLR2B_chr4_56973896_57036158 | 56996206 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 382 | 0.0026 | 20 | c.735 others(35): Show |
POLR2B | ENSG00000047315.17 | transcript | ENST00000314595.6 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
POLR2C_chr16_57457679_57477009 | 57475660 | A | ATCTCTCT others(13): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0002 | 1 | 390 | 0.0026 | 20 | c.*45 others(31): Show |
POLR2C | ENSG00000102978.13 | transcript | ENST00000219252.10 | protein_coding | 3652 | chr16 | TogoVar | |||||||
POLR2D_chr2_127838553_127863155 | 127839992 | C | CTTTATTT others(13): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0124 | 1 | 358 | 0.0028 | 20 | c.*81 others(31): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 3560 | chr2 | TogoVar | |||||||
POLR2D_chr2_127838553_127863155 | 127856290 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01074.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0032 others(24): Show |
46 | 358 | 0.1285 | 20 | c.73+ others(35): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
POLR2G_chr11_62756580_62771710 | 62757680 | C | CCCTCCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0015 |
2 | 368 | 0.0054 | 20 | c.-39 others(31): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 3899 | chr11 | TogoVar | |||||||
POLR2G_chr11_62756580_62771710 | 62760941 | A | AATCTATC others(13): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 368 | 0.0027 | 20 | c.-70 others(29): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 638 | chr11 | TogoVar | |||||||
POLR2G_chr11_62756580_62771710 | 62760971 | T | TCTATTAT others(13): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 368 | 0.0027 | 20 | c.-67 others(29): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 608 | chr11 | TogoVar | |||||||
POLR2M_chr15_57701714_57722557 | 57721335 | C | CATGACTA others(13): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 404 | 0.0025 | 20 | c.*66 others(31): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 3779 | chr15 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 77982038 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 a0001c0001t0002g0325 |
2 | 374 | 0.0054 | 20 | c.375 others(36): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 28/30 | chr10 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 78030446 | C | CTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 HG02738.hp2 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0188 others(1): Show |
4 | 374 | 0.0107 | 20 | c.-10 others(31): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 932 | chr10 | TogoVar |