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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNKD_chr2_218265519_218351793 | 218315116 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 280 | 0.0036 | 28 | c.237 others(47): 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(21): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0003 | a0001c0001t0019g0029 a0001c0002t0003g0002 |
2 | 454 | 0.0044 | 28 | c.-39 others(39): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 3608 | chr19 | TogoVar | |||||||
PNPLA1_chr6_36265060_36318955 | 36282044 | G | GGAAACAG others(21): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0374 | 1 | 386 | 0.0026 | 28 | c.206 others(45): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282044 | G | GGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02897.hp1 HG04115.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0005a0002c0002t0001others(2): Show | a0001c0001t0002g0166 a0001c0001t0002g0350 a0001c0003t0005g0008 others(4): Show |
7 | 386 | 0.0181 | 28 | c.206 others(45): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282054 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0384 | 1 | 386 | 0.0026 | 28 | c.206 others(45): 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(21): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0002 | 1 | 386 | 0.0026 | 28 | c.206 others(45): 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(21): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0263 | 1 | 386 | 0.0026 | 28 | c.206 others(45): 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(21): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0006 | 1 | 386 | 0.0026 | 28 | c.206 others(45): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282212 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0309 | 1 | 386 | 0.0026 | 28 | c.206 others(45): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282212 | G | GGAAGGGA others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01433.hp2 others(5): Show |
a0001a0005a0008others(1): Show | a0001c0003a0005c0005a0008c0011others(1): Show | a0001c0003t0001a0005c0005t0001a0008c0011t0001others(1): Show | a0001c0003t0001g0256 a0001c0003t0001g0322 a0001c0003t0001g0335 others(5): Show |
8 | 386 | 0.0207 | 28 | c.206 others(45): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(23): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0002g0087 a0001c0001t0002g0180 a0001c0001t0002g0350 others(23): Show |
26 | 386 | 0.0674 | 28 | c.776 others(45): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137551649 | C | CAGCCCCG others(21): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG02622.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0023others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0055 others(8): Show |
11 | 188 | 0.0585 | 28 | c.-14 others(39): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1248 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137551681 | C | CCCGCCCC others(21): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0095 | 1 | 188 | 0.0053 | 28 | c.-14 others(39): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1280 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137551734 | A | AGCCCCGC others(21): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 188 | 0.0053 | 28 | c.-15 others(39): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1333 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137551736 | C | CCCCGCAC others(21): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 | 1 | 188 | 0.0053 | 28 | c.-15 others(39): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1335 | chr9 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89476759 | T | TAGATAGA others(21): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 370 | 0.0027 | 28 | c.453 others(45): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499777 | T | TTGTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 NA18969.hp2 |
a0003a0004 | a0003c0005a0004c0002 | a0003c0005t0003a0004c0002t0003 | a0003c0005t0003g0346 a0004c0002t0003g0299 |
2 | 440 | 0.0046 | 28 | c.*45 others(39): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 493 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499816 | T | TATATATA others(21): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0401 | 1 | 440 | 0.0023 | 28 | c.*44 others(39): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 454 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACAGA others(21): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03704.hp1 NA18979.hp2 others(1): Show |
a0002a0004a0006 | a0002c0001a0002c0020a0004c0002others(1): Show | a0002c0001t0001a0002c0020t0001a0004c0002t0003others(1): Show | a0002c0001t0001g0116 a0002c0020t0001g0126 a0004c0002t0003g0259 others(1): Show |
4 | 440 | 0.0091 | 28 | c.101 others(47): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACAGAGA others(21): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG01361.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0012a0002c0001others(2): Show | a0001c0003t0002a0001c0012t0001a0002c0001t0001others(2): Show | a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0226 others(8): Show |
11 | 440 | 0.0250 | 28 | c.101 others(47): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POFUT1_chr20_32202880_32243658 | 32240836 | A | ATTATTTA others(21): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 322 | 0.0031 | 28 | c.*61 others(39): Show |
POFUT1 | ENSG00000101346.15 | transcript | ENST00000375749.8 | protein_coding | 2179 | chr20 | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119468586 | T | TACACACA others(21): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 422 | 0.0024 | 28 | c.-43 others(37): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 376 | chr3 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24757436 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0157 a0001c0001t0002g0153 |
2 | 197 | 0.0102 | 28 | c.296 others(47): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609345 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0210 | 1 | 400 | 0.0025 | 28 | c.220 others(45): 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(21): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 | 1 | 400 | 0.0025 | 28 | c.100 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 NA18988.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 others(1): Show |
4 | 340 | 0.0118 | 28 | c.438 others(43): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325037 | A | AGAGTGAG others(21): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0264 | 1 | 398 | 0.0025 | 28 | c.194 others(45): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325259 | T | TGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0201 | 1 | 398 | 0.0025 | 28 | c.194 others(45): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLH_chr6_43571185_43625523 | 43585637 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0036 | 1 | 262 | 0.0038 | 28 | c.273 others(45): Show |
POLH | ENSG00000170734.12 | transcript | ENST00000372236.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLK_chr5_75506891_75614991 | 75595248 | G | GAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0062 | a0001c0001t0009g0233 a0001c0001t0062g0278 |
2 | 356 | 0.0056 | 28 | c.152 others(45): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POLR1F_chr7_19690461_19714037 | 19702990 | A | ATGAAAAT others(21): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 430 | 0.0023 | 28 | c.396 others(45): Show |
POLR1F | ENSG00000105849.6 | transcript | ENST00000222567.6 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
POLR1G_chr19_45401644_45415737 | 45410565 | T | TTGTGTGT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG03098.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0098a0003c0003t0075 | a0001c0001t0098g0004 a0003c0003t0075g0001 |
2 | 406 | 0.0049 | 28 | c.*10 others(39): Show |
POLR1G | ENSG00000117877.11 | transcript | ENST00000309424.8 | protein_coding | 3/3 | 1097 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
POLR2M_chr15_57701714_57722557 | 57713820 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 404 | 0.0025 | 28 | c.964 others(43): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
POLR3C_chr1_145819200_145849402 | 145842793 | T | TGATAGAT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02015.hp2 HG02071.hp2 HG02083.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 | 4 | 368 | 0.0109 | 28 | c.*39 others(37): Show |
POLR3C | ENSG00000186141.10 | transcript | ENST00000334163.4 | protein_coding | 15/15 | 398 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
POLR3C_chr1_145819200_145849402 | 145849357 | C | CCCGCCCC others(21): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 368 | 0.0027 | 28 | c.*69 others(39): Show |
POLR3C | ENSG00000186141.10 | transcript | ENST00000334163.4 | protein_coding | 4956 | chr1 | TogoVar | |||||||
POLR3F_chr20_18462390_18489646 | 18486157 | A | AATATCTA others(21): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 452 | 0.0044 | 28 | c.*25 others(39): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1512 | chr20 | TogoVar | |||||||
POLR3G_chr5_90469864_90519557 | 90514755 | A | AACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0068 a0001c0001t0010g0143 |
2 | 366 | 0.0055 | 28 | c.*26 others(39): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 199 | chr5 | TogoVar | |||||||
POLR3H_chr22_41520799_41549470 | 41544429 | A | ACGCACCG others(21): Show |
5_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0058 a0001c0001t0024g0059 |
2 | 384 | 0.0052 | 28 | c.-32 others(37): Show |
POLR3H | ENSG00000100413.17 | transcript | ENST00000355209.9 | protein_coding | 1/6 | 329 | chr22 | TogoVar | ||||||
POMZP3_chr7_76604986_76632279 | 76620861 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 423 | 0.0024 | 28 | c.228 others(45): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTAT others(21): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 28 | c.*30 others(39): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710282 | A | ATATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 NA18951.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 382 | 0.0079 | 28 | c.*30 others(39): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2797 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75989021 | G | GGGGAAGG others(21): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051 | 1 | 278 | 0.0036 | 28 | c.*25 others(39): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2167 | chr7 | TogoVar | |||||||
POSTN_chr13_37557585_37603768 | 37564181 | C | CTTGTATA others(21): Show |
intron_variant | MODIFIER | HG02004.hp2 NA18939.hp1 NA18946.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0084 a0001c0001t0001g0158 a0001c0001t0002g0315 others(1): Show |
4 | 416 | 0.0096 | 28 | c.247 others(45): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 22/22 | chr13 | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124877840 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 346 | 0.0029 | 28 | c.125 others(45): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 6/18 | chr7 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14516296 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19083.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0058 a0001c0001t0016g0080 a0001c0001t0016g0094 |
3 | 388 | 0.0077 | 28 | c.141 others(47): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14516298 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18980.hp2 NA19070.hp1 |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0002a0006c0009t0010 | a0002c0002t0002g0113 a0002c0002t0002g0175 a0006c0009t0010g0186 |
3 | 388 | 0.0077 | 28 | c.141 others(47): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01261.hp2 HG02040.hp1 others(6): Show |
a0001a0016a0017 | a0001c0003a0016c0016a0017c0018 | a0001c0003t0001a0001c0003t0003a0001c0003t0020others(3): Show | a0001c0003t0001g0001 a0001c0003t0003g0001 a0001c0003t0020g0018 others(3): Show |
9 | 416 | 0.0216 | 28 | c.*47 others(39): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG02280.hp2 |
a0008 | a0008c0009 | a0008c0009t0018 | a0008c0009t0018g0021 a0008c0009t0018g0232 |
2 | 416 | 0.0048 | 28 | c.*47 others(39): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTEE_chr2_131204536_131270278 | 131211520 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0026 | a0001c0001t0003g0006 a0001c0002t0026g0014 |
3 | 288 | 0.0104 | 28 | c.-18 others(45): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POTEM_chr14_18962434_19008752 | 18969357 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0004 | a0004c0004 | a0004c0004t0036 | a0004c0004t0036g0006 | 1 | 67 | 0.0149 | 28 | c.521 others(45): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |