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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PODXL_chr7_131495271_131561628 | 131499780 | C | CATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 HG02897.hp2 |
a0002a0008 | a0002c0001a0008c0018 | a0002c0001t0001a0008c0018t0001 | a0002c0001t0001g0160 a0008c0018t0001g0030 |
2 | 440 | 0.0046 | 24 | c.*45 others(35): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02738.hp1 |
a0004a0005 | a0004c0002a0005c0004 | a0004c0002t0022a0004c0002t0034a0005c0004t0001 | a0004c0002t0022g0019 a0004c0002t0034g0264 a0005c0004t0001g0429 |
3 | 440 | 0.0068 | 24 | c.101 others(43): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACAGA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(24): Show |
a0002a0003a0004others(1): Show | a0002c0001a0003c0006a0004c0002others(2): Show | a0002c0001t0001a0002c0001t0003a0002c0001t0015others(5): Show | a0002c0001t0001g0001 a0002c0001t0001g0064 a0002c0001t0001g0077 others(23): Show |
27 | 440 | 0.0614 | 24 | c.101 others(43): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACAGAGA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01978.hp1 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0038a0002c0001others(6): Show | a0001c0003t0002a0001c0003t0005a0001c0038t0016others(9): Show | a0001c0003t0002g0192 a0001c0003t0002g0234 a0001c0003t0002g0244 others(24): Show |
29 | 440 | 0.0659 | 24 | c.101 others(43): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 NA18972.hp2 others(1): Show |
a0001a0003a0006 | a0001c0003a0003c0005a0006c0007 | a0001c0003t0005a0003c0005t0002a0006c0007t0002 | a0001c0003t0005g0293 a0001c0003t0005g0296 a0003c0005t0002g0351 others(1): Show |
4 | 440 | 0.0091 | 24 | c.101 others(43): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131532104 | A | AAATAATA others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0254 | 1 | 440 | 0.0023 | 24 | c.101 others(43): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85372773 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0215 | 1 | 227 | 0.0044 | 24 | c.283 others(41): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 2/16 | chrX | TogoVar | |||||||
POFUT1_chr20_32202880_32243658 | 32240836 | A | ATTATTTA others(17): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 HG02132.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0048 others(6): Show |
12 | 322 | 0.0373 | 24 | c.*61 others(35): Show |
POFUT1 | ENSG00000101346.15 | transcript | ENST00000375749.8 | protein_coding | 2179 | chr20 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24757436 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 197 | 0.0051 | 24 | c.296 others(43): 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(17): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 197 | 0.0051 | 24 | c.296 others(43): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24997192 | C | CATACATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0056 |
2 | 197 | 0.0102 | 24 | c.*12 others(35): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 207 | chrX | TogoVar | |||||||
POLD3_chr11_74587582_74648076 | 74609345 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 400 | 0.0025 | 24 | c.220 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 HG02809.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0006a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0002t0002g0047 others(2): Show |
5 | 400 | 0.0125 | 24 | c.100 others(43): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74636461 | G | GTTCTTGT others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0088 | 1 | 400 | 0.0025 | 24 | c.119 others(41): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01169.hp1 HG01192.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0020 a0001c0002t0001g0077 |
4 | 340 | 0.0118 | 24 | c.438 others(39): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132658881 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0262 | 1 | 292 | 0.0034 | 24 | c.327 others(41): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 26/48 | chr12 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325171 | A | AGAGTGAG others(17): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0131 | 1 | 398 | 0.0025 | 24 | c.194 others(41): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2096686 | A | AAGAGAGA others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0002 | 1 | 194 | 0.0052 | 24 | c.198 others(41): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 19/25 | chr4 | TogoVar | |||||||
POLQ_chr3_121426431_121550988 | 121522284 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03654.hp2 |
a0001a0007 | a0001c0036a0007c0008 | a0001c0036t0001a0007c0008t0001 | a0001c0036t0001g0239 a0007c0008t0001g0129 |
2 | 318 | 0.0063 | 24 | c.110 others(41): Show |
POLQ | ENSG00000051341.15 | transcript | ENST00000264233.6 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
POLR1A_chr2_86015216_86110886 | 86097214 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0006 | a0005c0006t0011 | a0005c0006t0011g0113 | 1 | 340 | 0.0029 | 24 | c.432 others(41): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 3/33 | chr2 | TogoVar | |||||||
POLR1G_chr19_45401644_45415737 | 45410565 | T | TTGTGTGT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG02257.hp2 HG03130.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0001 | 4 | 406 | 0.0099 | 24 | c.*10 others(35): 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(17): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 382 | 0.0026 | 24 | c.735 others(39): Show |
POLR2B | ENSG00000047315.17 | transcript | ENST00000314595.6 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
POLR2D_chr2_127838553_127863155 | 127856290 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00597.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0072 | a0001c0001t0004g0238 a0001c0001t0072g0239 |
2 | 358 | 0.0056 | 24 | c.73+ others(39): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 78030446 | C | CTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0238 a0001c0001t0002g0191 |
2 | 374 | 0.0054 | 24 | c.-10 others(35): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 932 | chr10 | TogoVar | |||||||
POLR3C_chr1_145819200_145849402 | 145842793 | T | TGATAGAT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG02155.hp1 HG02155.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0025 | a0001c0001t0005g0002 a0001c0001t0005g0025 a0001c0001t0005g0127 others(3): Show |
15 | 368 | 0.0408 | 24 | c.*37 others(33): Show |
POLR3C | ENSG00000186141.10 | transcript | ENST00000334163.4 | protein_coding | 15/15 | 398 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
POLR3E_chr16_22292409_22340096 | 22303639 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02809.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 |
3 | 358 | 0.0084 | 24 | c.36+ others(37): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
POLR3F_chr20_18462390_18489646 | 18486159 | T | TATCTATA others(17): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 452 | 0.0022 | 24 | c.*26 others(35): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1514 | chr20 | TogoVar | |||||||
POLR3F_chr20_18462390_18489646 | 18488251 | G | GGTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0112 | 1 | 452 | 0.0022 | 24 | c.*46 others(35): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 3606 | chr20 | TogoVar | |||||||
POLR3G_chr5_90469864_90519557 | 90514755 | A | AACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02895.hp1 HG03098.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0022 | a0001c0001t0002g0050 a0001c0001t0002g0217 a0001c0001t0002g0231 others(5): Show |
8 | 366 | 0.0219 | 24 | c.*26 others(35): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 199 | chr5 | TogoVar | |||||||
POLR3K_chr16_41407_58608 | 44314 | A | AACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 HG02818.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0105 a0001c0001t0005g0039 a0001c0001t0010g0181 |
3 | 432 | 0.0069 | 24 | c.*31 others(35): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 2092 | chr16 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 612393 | G | GGTGGGGG others(17): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 NA18522.hp1 |
a0008 | a0008c0011 | a0008c0011t0003a0008c0011t0006 | a0008c0011t0003g0279 a0008c0011t0006g0339 |
2 | 422 | 0.0047 | 24 | c.*48 others(35): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 4827 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 612427 | T | TGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 422 | 0.0024 | 24 | c.*48 others(35): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 4793 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 612427 | T | TGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0034 | a0034c0046 | a0034c0046t0002 | a0034c0046t0002g0238 | 1 | 422 | 0.0024 | 24 | c.*48 others(35): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 4793 | chr19 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76615973 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0245 a0002c0002t0007g0246 a0002c0002t0007g0247 |
3 | 423 | 0.0071 | 24 | c.345 others(41): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
PON1_chr7_95292676_95329532 | 95302096 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 a0001c0001t0002g0219 |
2 | 434 | 0.0046 | 24 | c.909 others(38): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
PON2_chr7_95399862_95440028 | 95417690 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 398 | 0.0025 | 24 | c.146 others(41): Show |
PON2 | ENSG00000105854.13 | transcript | ENST00000222572.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00735.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0005g0001 |
12 | 382 | 0.0314 | 24 | c.*30 others(35): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 382 | 0.0052 | 24 | c.*30 others(35): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710282 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03540.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 3 | 382 | 0.0079 | 24 | c.*30 others(35): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2797 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710282 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02735.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 382 | 0.0079 | 24 | c.*30 others(35): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2797 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710282 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(238): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0008g0001 others(1): Show |
241 | 382 | 0.6309 | 24 | c.*30 others(35): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2797 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710282 | A | ATATATGT others(17): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 382 | 0.0079 | 24 | c.*30 others(35): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2797 | chr7 | TogoVar | |||||||
POPDC2_chr3_119637056_119665589 | 119640962 | T | TAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 NA19011.hp1 NA19079.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0028 others(1): Show |
4 | 410 | 0.0098 | 24 | c.*16 others(35): Show |
POPDC2 | ENSG00000121577.14 | transcript | ENST00000493094.6 | protein_coding | 1093 | chr3 | TogoVar | |||||||
POPDC2_chr3_119637056_119665589 | 119662181 | A | AGAAGGAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0134 | 1 | 410 | 0.0024 | 24 | c.-17 others(35): Show |
POPDC2 | ENSG00000121577.14 | transcript | ENST00000493094.6 | protein_coding | 1593 | chr3 | TogoVar | |||||||
POSTN_chr13_37557585_37603768 | 37564181 | C | CTTGTATA others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01975.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0082 a0001c0001t0001g0145 others(14): Show |
20 | 416 | 0.0481 | 24 | c.247 others(41): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 22/22 | chr13 | TogoVar | |||||||
POSTN_chr13_37557585_37603768 | 37567235 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0188 | 1 | 416 | 0.0024 | 24 | c.243 others(43): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 21/22 | chr13 | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124817689 | A | ATTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 NA19057.hp2 NA19063.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0273 a0001c0001t0001g0280 a0003c0006t0001g0237 |
3 | 346 | 0.0087 | 24 | c.*62 others(35): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 4696 | chr7 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14516296 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02145.hp2 NA19006.hp2 others(1): Show |
a0001a0005a0024 | a0001c0001a0005c0005a0024c0019 | a0001c0001t0003a0001c0001t0034a0005c0005t0005others(1): Show | a0001c0001t0003g0085 a0001c0001t0034g0065 a0005c0005t0005g0341 others(1): Show |
4 | 388 | 0.0103 | 24 | c.141 others(43): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14516298 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02148.hp1 HG02258.hp2 others(12): Show |
a0002a0003a0006others(2): Show | a0002c0002a0002c0030a0003c0007others(3): Show | a0002c0002t0002a0002c0030t0002a0003c0007t0008others(3): Show | a0002c0002t0002g0130 a0002c0002t0002g0145 a0002c0002t0002g0154 others(12): Show |
15 | 388 | 0.0387 | 24 | c.141 others(43): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13636992 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01433.hp2 others(5): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0002 | a0002c0002t0002g0036 a0004c0005t0002g0040 a0004c0005t0002g0089 others(3): Show |
8 | 416 | 0.0192 | 24 | c.141 others(43): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |