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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLD3_chr11_74587582_74648076 | 74632877 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02723.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0113 a0001c0002t0002g0290 a0001c0002t0004g0035 others(1): Show |
4 | 400 | 0.0100 | 26 | c.100 others(45): 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(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01071.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0088 a0001c0001t0001g0128 a0001c0001t0004g0092 others(30): Show |
69 | 340 | 0.2029 | 26 | c.438 others(41): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132658881 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0252 | 1 | 292 | 0.0034 | 26 | c.327 others(43): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 26/48 | chr12 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132659257 | A | AGGAGCCC others(19): Show |
intron_variant | MODIFIER | HG03471.hp1 NA21309.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0178 a0001c0005t0003g0179 |
2 | 292 | 0.0069 | 26 | c.327 others(41): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 26/48 | chr12 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132659279 | T | TGGGGGGA others(19): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0037 | a0001c0037t0011 | a0001c0037t0011g0168 | 1 | 292 | 0.0034 | 26 | c.326 others(38): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 26/48 | chr12 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89319814 | T | TTACCCCT others(19): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 398 | 0.0025 | 26 | c.298 others(43): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 18/22 | chr15 | TogoVar | |||||||
POLH_chr6_43571185_43625523 | 43581683 | G | GGTGGCTG others(19): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0003 | a0002c0003t0081 | a0002c0003t0081g0220 | 1 | 262 | 0.0038 | 26 | c.-4- others(39): 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(19): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0280 | 1 | 356 | 0.0028 | 26 | c.152 others(43): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POLR1G_chr19_45401644_45415737 | 45410565 | T | TTGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0021 | a0003c0003t0021g0001 | 4 | 406 | 0.0099 | 26 | c.*10 others(37): Show |
POLR1G | ENSG00000117877.11 | transcript | ENST00000309424.8 | protein_coding | 3/3 | 1097 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
POLR2D_chr2_127838553_127863155 | 127856290 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0241 a0001c0001t0007g0242 |
2 | 358 | 0.0056 | 26 | c.73+ others(41): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 77976968 | T | TCCCCCCC others(19): Show |
3_prime_UTR_variant | MODIFIER | NA19006.hp2 | a0009 | a0009c0016 | a0009c0016t0023 | a0009c0016t0023g0139 | 1 | 374 | 0.0027 | 26 | c.*50 others(35): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 31/31 | 509 | chr10 | TogoVar | ||||||
POLR3E_chr16_22292409_22340096 | 22303639 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 358 | 0.0028 | 26 | c.36+ others(39): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
POLR3F_chr20_18462390_18489646 | 18486151 | A | AATATAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 452 | 0.0022 | 26 | c.*25 others(37): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1506 | chr20 | TogoVar | |||||||
POLR3F_chr20_18462390_18489646 | 18486185 | T | TAAATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 452 | 0.0022 | 26 | c.*26 others(37): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1540 | chr20 | TogoVar | |||||||
POLR3G_chr5_90469864_90519557 | 90514755 | A | AACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0040 | 1 | 366 | 0.0027 | 26 | c.*26 others(37): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 199 | chr5 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 612427 | T | TGTGTGTG others(19): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0025 | a0025c0051 | a0025c0051t0003 | a0025c0051t0003g0282 | 1 | 422 | 0.0024 | 26 | c.*48 others(37): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 4793 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 612427 | T | TGTGTGTG others(19): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 422 | 0.0024 | 26 | c.*48 others(37): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 4793 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 633529 | G | GGCGCCGC others(19): Show |
5_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02922.hp2 HG03139.hp2 others(1): Show |
a0008a0017a0027 | a0008c0011a0017c0030a0027c0033 | a0008c0011t0006a0017c0030t0006a0027c0033t0006 | a0008c0011t0006g0340 a0017c0030t0006g0341 a0017c0030t0006g0342 others(1): Show |
4 | 422 | 0.0095 | 26 | c.-18 others(33): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 1/21 | 18 | chr19 | TogoVar | ||||||
POM121C_chr7_75411786_75491299 | 75481228 | T | TATATATG others(19): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 308 | 0.0033 | 26 | c.-45 others(45): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76620861 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 423 | 0.0024 | 26 | c.228 others(43): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76627188 | G | GCCCGCCG others(19): Show |
5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(80): Show |
a0002a0011 | a0002c0002a0011c0013 | a0002c0002t0002a0002c0002t0022a0002c0002t0024others(1): Show | a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0014 others(69): Show |
83 | 423 | 0.1962 | 26 | c.-63 others(35): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 1/7 | 1125 | chr7 | TogoVar | ||||||
PON1_chr7_95292676_95329532 | 95302096 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0252 a0001c0001t0002g0182 |
2 | 434 | 0.0046 | 26 | c.909 others(41): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTAT others(19): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 382 | 0.0052 | 26 | c.*30 others(37): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710282 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG03130.hp1 HG03209.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 382 | 0.0262 | 26 | c.*30 others(37): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2797 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710282 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 26 | c.*30 others(37): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2797 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988776 | T | TGGGGGGG others(19): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0205 | 1 | 278 | 0.0036 | 26 | c.*22 others(37): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1922 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75989106 | G | GTGGAGGT others(19): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0001 | a0001c0005t0001g0016 a0001c0005t0001g0029 a0001c0005t0001g0031 others(4): Show |
7 | 278 | 0.0252 | 26 | c.*26 others(37): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2252 | chr7 | TogoVar | |||||||
POSTN_chr13_37557585_37603768 | 37564181 | C | CTTGTATA others(19): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01943.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0142 others(10): Show |
15 | 416 | 0.0361 | 26 | c.247 others(43): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 22/22 | chr13 | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124817689 | A | ATTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG03017.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0264 a0001c0001t0001g0267 others(2): Show |
5 | 346 | 0.0145 | 26 | c.*62 others(37): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 4696 | chr7 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14516298 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02273.hp1 NA18982.hp2 |
a0002a0003a0006 | a0002c0002a0003c0007a0006c0009 | a0002c0002t0002a0003c0007t0008a0006c0009t0010 | a0002c0002t0002g0136 a0003c0007t0008g0216 a0006c0009t0010g0185 |
3 | 388 | 0.0077 | 26 | c.141 others(45): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13636992 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 NA20905.hp2 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0088 a0004c0005t0002g0113 |
2 | 416 | 0.0048 | 26 | c.141 others(45): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13637004 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0110 | 1 | 416 | 0.0024 | 26 | c.141 others(45): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13637004 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 416 | 0.0024 | 26 | c.141 others(45): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01943.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 a0001c0003t0003g0196 a0001c0003t0003g0211 |
7 | 416 | 0.0168 | 26 | c.*47 others(37): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTEE_chr2_131204536_131270278 | 131211520 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01099.hp1 others(9): Show |
a0001a0005a0020 | a0001c0001a0001c0038a0005c0006others(1): Show | a0001c0001t0003a0001c0001t0021a0001c0038t0024others(2): Show | a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 others(9): Show |
12 | 288 | 0.0417 | 26 | c.-18 others(43): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POTEE_chr2_131204536_131270278 | 131211540 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0039 | a0039c0032 | a0039c0032t0003 | a0039c0032t0003g0219 | 1 | 288 | 0.0035 | 26 | c.-18 others(43): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
POTEI_chr2_130454455_130514328 | 130509818 | C | CGCGTGCG others(19): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG01361.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0017t0001g0051 |
3 | 125 | 0.0240 | 26 | c.-58 others(35): Show |
POTEI | ENSG00000196834.14 | transcript | ENST00000451531.7 | protein_coding | 491 | chr2 | TogoVar | |||||||
POTEM_chr14_18962434_19008752 | 18969357 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0031 | 1 | 67 | 0.0149 | 26 | c.521 others(43): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
POTEM_chr14_18962434_19008752 | 18969357 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0037 | 1 | 67 | 0.0149 | 26 | c.521 others(43): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
POU4F2_chr4_146633893_146647474 | 146644583 | C | CTGTGTTA others(19): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 414 | 0.0097 | 26 | c.*37 others(37): Show |
POU4F2 | ENSG00000151615.3 | transcript | ENST00000281321.3 | protein_coding | 2110 | chr4 | TogoVar | |||||||
POU6F1_chr12_51181936_51223062 | 51219921 | A | ATGTATGT others(19): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0292 | 1 | 440 | 0.0023 | 26 | c.-23 others(37): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 1860 | chr12 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39005484 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0035 a0001c0001t0003g0039 a0001c0001t0007g0041 |
3 | 170 | 0.0177 | 26 | c.105 others(45): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39015700 | T | TATATAGA others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0165 a0001c0001t0002g0015 a0001c0001t0002g0018 others(66): Show |
69 | 170 | 0.4059 | 26 | c.105 others(45): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39030543 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 170 | 0.0059 | 26 | c.105 others(45): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39068490 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18522.hp2 NA19084.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0001a0002c0008t0001a0002c0008t0016 | a0001c0002t0001g0159 a0002c0008t0001g0109 a0002c0008t0016g0157 |
3 | 170 | 0.0177 | 26 | c.106 others(45): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39397814 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 170 | 0.0059 | 26 | c.973 others(43): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PP2D1_chr3_19980346_20017264 | 20012956 | G | GTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 HG03704.hp2 HG04184.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0062 a0002c0002t0003g0067 a0002c0002t0003g0086 |
3 | 396 | 0.0076 | 26 | c.-88 others(35): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 693 | chr3 | TogoVar | |||||||
PP2D1_chr3_19980346_20017264 | 20012985 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0089 | 1 | 396 | 0.0025 | 26 | c.-91 others(35): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 722 | chr3 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105460856 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0209 a0001c0001t0006g0207 |
2 | 366 | 0.0055 | 26 | c.158 others(43): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105460858 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03225.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0172 a0001c0001t0002g0187 |
4 | 366 | 0.0109 | 26 | c.158 others(43): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar |