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 | 74609364 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(59): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0007a0005c0008t0007 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(41): Show |
62 | 400 | 0.1550 | -15 | c.220 others(32): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609366 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01891.hp2 others(6): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0114 a0001c0001t0001g0141 a0001c0001t0001g0142 others(6): Show |
9 | 400 | 0.0225 | -15 | c.220 others(32): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609368 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02615.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0113 others(7): Show |
15 | 400 | 0.0375 | -15 | c.220 others(32): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD4_chr11_67345772_67358546 | 67347624 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 314 | 0.0032 | -15 | c.*43 others(26): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3147 | chr11 | TogoVar | |||||||
POLE2_chr14_49638555_49693214 | 49646302 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 234 | 0.0043 | -15 | c.156 others(32): Show |
POLE2 | ENSG00000100479.14 | transcript | ENST00000216367.10 | protein_coding | 18/18 | chr14 | TogoVar | |||||||
POLE2_chr14_49638555_49693214 | 49652263 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 234 | 0.0043 | -15 | c.121 others(32): Show |
POLE2 | ENSG00000100479.14 | transcript | ENST00000216367.10 | protein_coding | 15/18 | chr14 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132628644 | TCAAAACA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(48): Show |
a0001a0002a0007others(2): Show | a0001c0005a0001c0041a0002c0004others(6): Show | a0001c0005t0003a0001c0005t0004a0001c0005t0008others(8): Show | a0001c0005t0003g0178 a0001c0005t0003g0179 a0001c0005t0003g0183 others(46): Show |
51 | 292 | 0.1747 | -15 | c.633 others(34): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 45/48 | chr12 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132639952 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0041 | a0001c0001t0001a0001c0041t0010 | a0001c0001t0001g0150 a0001c0041t0010g0013 |
2 | 292 | 0.0069 | -15 | c.537 others(32): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 39/48 | chr12 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132689289 | GGGCGCGG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0013 | a0013c0020 | a0013c0020t0005 | a0013c0020t0005g0033 | 1 | 292 | 0.0034 | -15 | c.-19 others(26): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 1948 | chr12 | TogoVar | |||||||
POLH_chr6_43571185_43625523 | 43619364 | CAAAAAAA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19030.hp2 NA19043.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0069a0001c0001t0073others(1): Show | a0001c0001t0049g0196 a0001c0001t0069g0074 a0001c0001t0073g0092 others(1): Show |
4 | 262 | 0.0153 | -15 | c.*48 others(26): Show |
POLH | ENSG00000170734.12 | transcript | ENST00000372236.9 | protein_coding | 11/11 | 4823 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
POLM_chr7_44067062_44087530 | 44071355 | AAATACTG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02257.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0092 a0001c0002t0002g0093 |
2 | 394 | 0.0051 | -15 | c.*19 others(26): Show |
POLM | ENSG00000122678.17 | transcript | ENST00000242248.10 | protein_coding | 706 | chr7 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2105804 | GTGATGAT others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02723.hp2 others(2): Show |
a0001a0005 | a0001c0002a0005c0005 | a0001c0002t0001a0005c0005t0001 | a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 others(2): Show |
5 | 194 | 0.0258 | -15 | c.198 others(34): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 19/25 | chr4 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2113859 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0152 a0002c0001t0001g0153 |
2 | 194 | 0.0103 | -15 | c.198 others(36): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 19/25 | chr4 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2164802 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0143 | 1 | 194 | 0.0052 | -15 | c.155 others(34): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 13/25 | chr4 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2188624 | CAAAACAA others(8): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp2 others(90): Show |
a0001a0006a0009 | a0001c0002a0001c0003a0001c0014others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(90): Show |
93 | 194 | 0.4794 | -15 | c.102 others(34): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 7/25 | chr4 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2210582 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 others(2): Show |
5 | 194 | 0.0258 | -15 | c.214 others(32): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 4/25 | chr4 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2210618 | TAATAATA others(8): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG03579.hp2 others(1): Show |
a0001a0006 | a0001c0002a0006c0006 | a0001c0002t0001a0006c0006t0001 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0047 others(1): Show |
4 | 194 | 0.0206 | -15 | c.214 others(32): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 4/25 | chr4 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2211250 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp2 HG02922.hp2 others(1): Show |
a0002a0005 | a0002c0001a0005c0005 | a0002c0001t0001a0005c0005t0001 | a0002c0001t0001g0157 a0005c0005t0001g0084 a0005c0005t0001g0085 others(1): Show |
4 | 194 | 0.0206 | -15 | c.213 others(32): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 4/25 | chr4 | TogoVar | |||||||
POLQ_chr3_121426431_121550988 | 121498319 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(1): Show |
4 | 318 | 0.0126 | -15 | c.215 others(32): Show |
POLQ | ENSG00000051341.15 | transcript | ENST00000264233.6 | protein_coding | 13/29 | chr3 | TogoVar | |||||||
POLR1A_chr2_86015216_86110886 | 86077843 | ACACACAC others(8): Show |
A | splice_donor_variant others(2): Show |
HIGH | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0323 | 1 | 340 | 0.0029 | -15 | c.138 others(29): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 11/33 | chr2 | TogoVar | |||||||
POLR1B_chr2_112537465_112584818 | 112539111 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0001 a0001c0001t0016g0001 |
2 | 384 | 0.0052 | -15 | c.-33 others(26): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 3353 | chr2 | TogoVar | |||||||
POLR1B_chr2_112537465_112584818 | 112579208 | CAAAAAAA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01257.hp1 others(13): Show |
a0001a0003 | a0001c0004a0001c0005a0001c0009others(1): Show | a0001c0004t0006a0001c0005t0006a0001c0005t0046others(2): Show | a0001c0004t0006g0021 a0001c0004t0006g0058 a0001c0005t0006g0012 others(10): Show |
16 | 384 | 0.0417 | -15 | c.*34 others(26): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 15/15 | 3497 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
POLR1D_chr13_27616892_27628449 | 27620496 | TCGCCGCC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | -15 | c.-14 others(26): Show |
POLR1D | ENSG00000186184.20 | transcript | ENST00000302979.5 | protein_coding | 1395 | chr13 | TogoVar | |||||||
POLR1E_chr9_37480948_37508697 | 37500155 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp2 others(84): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 others(25): Show |
87 | 408 | 0.2132 | -15 | c.887 others(30): Show |
POLR1E | ENSG00000137054.16 | transcript | ENST00000377798.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
POLR1H_chr6_30056265_30069907 | 30062714 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0064 | 1 | 445 | 0.0023 | -15 | c.356 others(30): Show |
POLR1H | ENSG00000066379.15 | transcript | ENST00000332435.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLR2B_chr4_56973896_57036158 | 56993307 | AAAACAAA others(8): Show |
A | intron_variant | MODIFIER | NA18747.hp1 NA18945.hp1 NA18955.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 a0001c0002t0001g0303 a0001c0002t0001g0313 others(5): Show |
9 | 382 | 0.0236 | -15 | c.244 others(32): Show |
POLR2B | ENSG00000047315.17 | transcript | ENST00000314595.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
POLR2E_chr19_1081574_1100375 | 1091321 | GCTGGTGG others(8): Show |
G | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 442 | 0.0023 | -15 | c.349 others(30): Show |
POLR2E | ENSG00000099817.12 | transcript | ENST00000615234.5 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
POLR2E_chr19_1081574_1100375 | 1098282 | CCACAGGT others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 442 | 0.0023 | -15 | c.-29 others(26): Show |
POLR2E | ENSG00000099817.12 | transcript | ENST00000615234.5 | protein_coding | 2908 | chr19 | TogoVar | |||||||
POLR2M_chr15_57701714_57722557 | 57713820 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02523.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0030 a0001c0001t0008g0040 |
4 | 404 | 0.0099 | -15 | c.964 others(30): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
POLR3A_chr10_77970149_78034515 | 78030490 | GTTTTTTT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0001g0027 a0001c0001t0006g0320 a0001c0001t0007g0022 others(25): Show |
31 | 374 | 0.0829 | -15 | c.-10 others(26): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 976 | chr10 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 78032961 | TTTTTCCT others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0021 | 1 | 374 | 0.0027 | -15 | c.-35 others(26): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 3447 | chr10 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 78032967 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03098.hp1 |
a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0305 a0001c0009t0008g0306 |
2 | 374 | 0.0054 | -15 | c.-35 others(26): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 3453 | chr10 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 78033548 | ACCCACCT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 374 | 0.0027 | -15 | c.-41 others(26): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 4034 | chr10 | TogoVar | |||||||
POLR3E_chr16_22292409_22340096 | 22329826 | ACTATGTT others(8): Show |
A | intron_variant | MODIFIER | NA18941.hp2 NA18962.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 |
3 | 358 | 0.0084 | -15 | c.194 others(34): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 19/20 | chr16 | TogoVar | |||||||
POLR3G_chr5_90469864_90519557 | 90493676 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0031 a0001c0001t0004g0100 a0001c0001t0006g0222 others(5): Show |
8 | 366 | 0.0219 | -15 | c.248 others(32): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POLR3H_chr22_41520799_41549470 | 41544352 | GCCACGCC others(8): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0036 a0001c0001t0020g0154 |
3 | 384 | 0.0078 | -15 | c.-26 others(24): Show |
POLR3H | ENSG00000100413.17 | transcript | ENST00000355209.9 | protein_coding | 1/6 | 252 | chr22 | TogoVar | ||||||
POLR3K_chr16_41407_58608 | 52446 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 432 | 0.0023 | -15 | c.112 others(30): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
POM121C_chr7_75411786_75491299 | 75468126 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01123.hp1 HG01168.hp2 others(46): Show |
a0002a0005a0014others(2): Show | a0002c0003a0002c0012a0002c0037others(7): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0030others(13): Show | a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0120 others(46): Show |
49 | 308 | 0.1591 | -15 | c.-15 others(34): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 3/14 | chr7 | TogoVar | |||||||
POM121_chr7_72920095_72953299 | 72925632 | GCGCCGCG others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(27): Show |
a0007a0009a0015 | a0007c0024a0007c0042a0007c0043others(14): Show | a0007c0024t0007a0007c0042t0002a0007c0043t0012others(15): Show | a0007c0024t0007g0024 a0007c0024t0007g0152 a0007c0042t0002g0011 others(21): Show |
30 | 424 | 0.0708 | -15 | c.540 others(22): Show |
p.Pro others(13): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 1/13 | 567/5842 | 540/3750 | 180/1249 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
POM121_chr7_72920095_72953299 | 72925661 | ACCGCCGC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG01934.hp2 | a0035 | a0035c0113 | a0035c0113t0044 | a0035c0113t0044g0059 | 1 | 424 | 0.0024 | -15 | c.546 others(22): Show |
p.Arg others(13): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 1/13 | 573/5842 | 546/3750 | 182/1249 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
POM121_chr7_72920095_72953299 | 72949149 | GTCCTGAA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02630.hp1 others(2): Show |
a0004a0013a0040 | a0004c0022a0013c0048a0040c0110 | a0004c0022t0009a0013c0048t0054a0040c0110t0034 | a0004c0022t0009g0052 a0004c0022t0009g0153 a0013c0048t0054g0075 others(1): Show |
5 | 424 | 0.0118 | -15 | c.*29 others(26): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 851 | chr7 | TogoVar | |||||||
POMGNT2_chr3_43074234_43111079 | 43101918 | TGGCAAGA others(8): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 378 | 0.0027 | -15 | c.-10 others(34): Show |
POMGNT2 | ENSG00000144647.7 | transcript | ENST00000344697.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76627147 | GAGGCCGA others(8): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0004 | a0004c0004t0018 | a0004c0004t0018g0039 | 1 | 423 | 0.0024 | -15 | c.-60 others(24): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 1/7 | 1084 | chr7 | TogoVar | ||||||
POP1_chr8_98112293_98164835 | 98115401 | AAAAAAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(91): Show |
a0001a0005a0010others(5): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0143 others(83): Show |
94 | 422 | 0.2228 | -15 | c.-19 others(26): Show |
POP1 | ENSG00000104356.11 | transcript | ENST00000401707.7 | protein_coding | 1891 | chr8 | TogoVar | |||||||
POP1_chr8_98112293_98164835 | 98161565 | CCCTCTCC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG01433.hp2 others(36): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0003a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(10): Show | a0001c0001t0001g0035 a0001c0001t0001g0134 a0001c0001t0001g0144 others(35): Show |
39 | 422 | 0.0924 | -15 | c.*32 others(26): Show |
POP1 | ENSG00000104356.11 | transcript | ENST00000401707.7 | protein_coding | 1731 | chr8 | TogoVar | |||||||
POP4_chr19_29601283_29622237 | 29601991 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0053 a0001c0001t0011g0031 |
5 | 462 | 0.0108 | -15 | c.-43 others(26): Show |
POP4 | ENSG00000105171.10 | transcript | ENST00000585603.6 | protein_coding | 4291 | chr19 | TogoVar | |||||||
POPDC2_chr3_119637056_119665589 | 119662197 | GGAAGGAA others(8): Show |
G | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0011 | 1 | 410 | 0.0024 | -15 | c.-17 others(26): Show |
POPDC2 | ENSG00000121577.14 | transcript | ENST00000493094.6 | protein_coding | 1609 | chr3 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75912207 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0001 | a0001c0026a0001c0027 | a0001c0026t0001a0001c0027t0001 | a0001c0026t0001g0024 a0001c0027t0001g0025 |
2 | 278 | 0.0072 | -15 | c.-29 others(26): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2947 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75935655 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0079 | 1 | 278 | 0.0036 | -15 | c.-13 others(34): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75989108 | GTAGGGGG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0110 | 1 | 278 | 0.0036 | -15 | c.*26 others(26): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2254 | chr7 | TogoVar |