regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLR1A_chr2_86015216_86110886 | 86028548 | TGGCTGGT others(5): Show |
T | intron_variant | MODIFIER | NA19056.hp1 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0267 | 1 | 340 | 0.0029 | -12 | c.489 others(27): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 32/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86041149 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0004 | a0003c0004t0050 | a0003c0004t0050g0105 | 1 | 340 | 0.0029 | -12 | c.357 others(29): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 24/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86041180 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0121 | 1 | 340 | 0.0029 | -12 | c.357 others(29): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 24/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86054057 | CCTCCATT others(5): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 340 | 0.0029 | -12 | c.220 others(27): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 15/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86063335 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0012 | a0012c0029 | a0012c0029t0063 | a0012c0029t0063g0174 | 1 | 340 | 0.0029 | -12 | c.205 others(31): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 14/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86077809 | GCGCACAC others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(52): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0002a0001c0018others(6): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0008others(22): Show | a0001c0001t0001g0266a0001c0002t0003g0187a0001c0002t0003g0268others(52): Show | 55 | 340 | 0.1618 | -12 | c.138 others(27): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 11/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86077811 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG02486.hp1 NA19091.hp1 |
a0001a0002a0007 | a0001c0002a0002c0003a0007c0009 | a0001c0002t0003a0002c0003t0002a0007c0009t0013 | a0001c0002t0003g0184a0002c0003t0002g0020a0007c0009t0013g0167 | 3 | 340 | 0.0088 | -12 | c.138 others(27): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 11/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86097214 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 NA18522.hp2 |
a0001 | a0001c0010 | a0001c0010t0016 | a0001c0010t0016g0007a0001c0010t0016g0151 | 3 | 340 | 0.0088 | -12 | c.432 others(29): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 3/33 | chr2 | TogoVar | ||||||
POLR1B_chr2_112537465_112584818 | 112573837 | GTTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0056 | a0001c0004t0056g0193 | 1 | 384 | 0.0026 | -12 | c.252 others(27): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
POLR1E_chr9_37480948_37508697 | 37486637 | CGTACATT others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0088a0001c0001t0004g0016a0001c0001t0004g0118others(2): Show | 9 | 408 | 0.0221 | -12 | c.77- others(23): Show |
POLR1E | ENSG00000137054.16 | transcript | ENST00000377798.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
POLR2B_chr4_56973896_57036158 | 56992464 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 382 | 0.0026 | -12 | c.243 others(29): Show |
POLR2B | ENSG00000047315.17 | transcript | ENST00000314595.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
POLR2C_chr16_57457679_57477009 | 57475660 | ATCTCTCT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00609.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0002g0003a0001c0001t0002g0020others(1): Show | 27 | 390 | 0.0692 | -12 | c.*45 others(23): Show |
POLR2C | ENSG00000102978.13 | transcript | ENST00000219252.10 | protein_coding | 3652 | chr16 | TogoVar | ||||||
POLR2D_chr2_127838553_127863155 | 127856591 | TAAAATTA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0116 | 1 | 358 | 0.0028 | -12 | c.73+ others(27): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
POLR2F_chr22_37948699_37974312 | 37951797 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02976.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0148a0001c0001t0003g0167 | 4 | 404 | 0.0099 | -12 | c.-19 others(23): Show |
POLR2F | ENSG00000100142.16 | transcript | ENST00000442738.7 | protein_coding | 1901 | chr22 | TogoVar | ||||||
POLR2G_chr11_62756580_62771710 | 62757073 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02055.hp2 HG02738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(3): Show | 10 | 368 | 0.0272 | -12 | c.-45 others(23): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 4506 | chr11 | TogoVar | ||||||
POLR2G_chr11_62756580_62771710 | 62757499 | CTCCTTCC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0028others(3): Show | 29 | 368 | 0.0788 | -12 | c.-41 others(23): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 4080 | chr11 | TogoVar | ||||||
POLR2G_chr11_62756580_62771710 | 62760963 | TCTATCTA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02922.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0057others(3): Show | 6 | 368 | 0.0163 | -12 | c.-68 others(21): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 616 | chr11 | TogoVar | ||||||
POLR2G_chr11_62756580_62771710 | 62760967 | TCTATTAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01168.hp1 HG02015.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(6): Show | 15 | 368 | 0.0408 | -12 | c.-68 others(21): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 612 | chr11 | TogoVar | ||||||
POLR2G_chr11_62756580_62771710 | 62760971 | TTATCTAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01256.hp1 HG01258.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(8): Show | 18 | 368 | 0.0489 | -12 | c.-67 others(21): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 608 | chr11 | TogoVar | ||||||
POLR2M_chr15_57701714_57722557 | 57713820 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01175.hp1 others(26): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0003others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0100a0001c0002t0001g0006others(9): Show | 29 | 404 | 0.0718 | -12 | c.964 others(27): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
POLR3A_chr10_77970149_78034515 | 78020173 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18989.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0053 | 1 | 374 | 0.0027 | -12 | c.118 others(29): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 8/30 | chr10 | TogoVar | ||||||
POLR3A_chr10_77970149_78034515 | 78030446 | CTATATAT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02572.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0005a0001c0001t0006a0001c0019t0024 | a0001c0001t0005g0202a0001c0001t0006g0320a0001c0019t0024g0319 | 3 | 374 | 0.0080 | -12 | c.-10 others(23): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 932 | chr10 | TogoVar | ||||||
POLR3B_chr12_106352748_106515198 | 106405539 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0102a0002c0003t0001g0106 | 2 | 304 | 0.0066 | -12 | c.847 others(27): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POLR3B_chr12_106352748_106515198 | 106426222 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0203 | 1 | 304 | 0.0033 | -12 | c.110 others(29): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POLR3B_chr12_106352748_106515198 | 106459025 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 304 | 0.0033 | -12 | c.245 others(29): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POLR3C_chr1_145819200_145849402 | 145819271 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 368 | 0.0054 | -12 | c.-51 others(23): Show |
POLR3C | ENSG00000186141.10 | transcript | ENST00000334163.4 | protein_coding | 4928 | chr1 | TogoVar | ||||||
POLR3D_chr8_22240133_22259601 | 22258276 | TATACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 NA18974.hp2 NA19059.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0008 | a0001c0001t0004g0029a0001c0003t0008g0007 | 3 | 432 | 0.0069 | -12 | c.*77 others(23): Show |
POLR3D | ENSG00000168495.13 | transcript | ENST00000306433.9 | protein_coding | 3676 | chr8 | TogoVar | ||||||
POLR3E_chr16_22292409_22340096 | 22295486 | TTTTATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | NA19081.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0039 | 2 | 358 | 0.0056 | -12 | c.-20 others(23): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 1922 | chr16 | TogoVar | ||||||
POLR3E_chr16_22292409_22340096 | 22295790 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 358 | 0.0028 | -12 | c.-17 others(23): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 1618 | chr16 | TogoVar | ||||||
POLR3E_chr16_22292409_22340096 | 22317638 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 358 | 0.0028 | -12 | c.865 others(27): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
POLR3E_chr16_22292409_22340096 | 22330988 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 358 | 0.0028 | -12 | c.194 others(31): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
POLR3F_chr20_18462390_18489646 | 18486125 | TAAATATA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18947.hp2 NA18951.hp1 NA19058.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0111a0001c0002t0007g0015a0001c0002t0007g0045 | 5 | 452 | 0.0111 | -12 | c.*25 others(23): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1480 | chr20 | TogoVar | ||||||
POLR3F_chr20_18462390_18489646 | 18486167 | TATGTAAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 2 | 452 | 0.0044 | -12 | c.*26 others(23): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1522 | chr20 | TogoVar | ||||||
POLR3GL_chr1_145959690_145983848 | 145971981 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0250 | 2 | 372 | 0.0054 | -12 | c.-41 others(29): Show |
POLR3GL | ENSG00000121851.13 | transcript | ENST00000369314.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
POLR3G_chr5_90469864_90519557 | 90493676 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0096 | 2 | 366 | 0.0055 | -12 | c.248 others(29): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
POLR3H_chr22_41520799_41549470 | 41521035 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 384 | 0.0026 | -12 | c.*82 others(23): Show |
POLR3H | ENSG00000100413.17 | transcript | ENST00000355209.9 | protein_coding | 4763 | chr22 | TogoVar | ||||||
POLR3H_chr22_41520799_41549470 | 41544410 | GCCGCTCG others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02080.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0047a0001c0001t0021g0048 | 2 | 384 | 0.0052 | -12 | c.-32 others(21): Show |
POLR3H | ENSG00000100413.17 | transcript | ENST00000355209.9 | protein_coding | 1/6 | 310 | chr22 | TogoVar | |||||
POLR3K_chr16_41407_58608 | 42826 | TGGCCAAG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 432 | 0.0023 | -12 | c.*45 others(23): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 3580 | chr16 | TogoVar | ||||||
POLR3K_chr16_41407_58608 | 44585 | AGATCAGG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00735.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0002a0001c0001t0003g0009a0001c0001t0003g0013others(30): Show | 42 | 432 | 0.0972 | -12 | c.*28 others(23): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1821 | chr16 | TogoVar | ||||||
POLR3K_chr16_41407_58608 | 52446 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03041.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0081a0001c0001t0002g0082a0001c0001t0005g0135others(2): Show | 5 | 432 | 0.0116 | -12 | c.112 others(27): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
POLRMT_chr19_612221_638537 | 613608 | CGGGGATG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02647.hp2 others(4): Show |
a0002a0004a0006others(2): Show | a0002c0006a0004c0004a0006c0008others(2): Show | a0002c0006t0004a0004c0004t0002a0006c0008t0003others(2): Show | a0002c0006t0004g0171a0004c0004t0002g0230a0004c0004t0002g0232others(4): Show | 7 | 422 | 0.0166 | -12 | c.*36 others(23): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3612 | chr19 | TogoVar | ||||||
POLRMT_chr19_612221_638537 | 613638 | CGGGGATG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02109.hp1 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0001a0001c0001t0002a0002c0013t0002others(2): Show | a0001c0001t0001g0040a0001c0001t0002g0008a0002c0013t0002g0236others(3): Show | 6 | 422 | 0.0142 | -12 | c.*36 others(23): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3582 | chr19 | TogoVar | ||||||
POLRMT_chr19_612221_638537 | 613668 | TGGGGATG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01081.hp2 others(20): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0001c0063others(2): Show | a0001c0001t0001a0001c0005t0005a0001c0063t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0010others(15): Show | 23 | 422 | 0.0545 | -12 | c.*35 others(23): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3552 | chr19 | TogoVar | ||||||
POLRMT_chr19_612221_638537 | 617971 | GCCTCGCC others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp1 NA18952.hp1 |
a0001a0030 | a0001c0005a0030c0049 | a0001c0005t0005a0030c0049t0003 | a0001c0005t0005g0120a0030c0049t0003g0281 | 2 | 422 | 0.0047 | -12 | c.342 others(29): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 17/20 | chr19 | TogoVar | ||||||
POM121C_chr7_75411786_75491299 | 75457150 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01168.hp2 others(45): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0002c0003others(18): Show | a0001c0001t0001a0001c0005t0005a0001c0005t0023others(24): Show | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0005t0005g0052others(45): Show | 48 | 308 | 0.1558 | -12 | c.-15 others(33): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
POM121C_chr7_75411786_75491299 | 75465895 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02155.hp1 | a0009 | a0009c0034 | a0009c0034t0003 | a0009c0034t0003g0087 | 1 | 308 | 0.0033 | -12 | c.-15 others(31): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
POM121C_chr7_75411786_75491299 | 75472826 | GAGGGAGG others(5): Show |
G | intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0017 | a0003c0017t0039 | a0003c0017t0039g0294 | 1 | 308 | 0.0033 | -12 | c.-15 others(31): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
POM121_chr7_72920095_72953299 | 72938064 | GCTAACGT others(5): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0063 | a0063c0084 | a0063c0084t0003 | a0063c0084t0003g0071 | 1 | 424 | 0.0024 | -12 | c.127 others(29): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POMGNT1_chr1_46183683_46203434 | 46202696 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 2 | 406 | 0.0049 | -12 | c.-44 others(23): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 4263 | chr1 | TogoVar | ||||||
POMT1_chr9_131497918_131528799 | 131504747 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 334 | 0.0030 | -12 | c.122 others(27): Show |
POMT1 | ENSG00000130714.19 | transcript | ENST00000402686.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |