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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNPT1_chr2_55629061_55698844 | 55636871 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0005 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0132others(45): Show | 48 | 390 | 0.1231 | -9 | c.219 others(26): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 27/27 | chr2 | TogoVar | ||||||
PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00642.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0005 | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(4): Show | a0001c0001t0001g0122a0001c0001t0001g0129a0001c0001t0001g0132others(30): Show | 33 | 390 | 0.0846 | -9 | c.128 others(28): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | ||||||
PNRC1_chr6_89075751_89090160 | 89086498 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01884.hp2 others(23): Show |
a0001 | a0001c0001a0001c0007a0001c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0003g0001others(6): Show | 26 | 396 | 0.0657 | -9 | c.*23 others(20): Show |
PNRC1 | ENSG00000146278.11 | transcript | ENST00000336032.4 | protein_coding | 1339 | chr6 | TogoVar | ||||||
PODXL2_chr3_127624185_127677802 | 127656734 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG02109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0055a0001c0001t0002g0074a0001c0001t0004g0031others(13): Show | 20 | 402 | 0.0498 | -9 | c.350 others(26): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
POF1B_chrX_85272396_85384665 | 85360557 | ATACATAT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG02717.hp1 |
a0001a0004 | a0001c0002a0004c0007a0004c0014 | a0001c0002t0004a0004c0007t0001a0004c0014t0003 | a0001c0002t0004g0022a0004c0007t0001g0034a0004c0014t0003g0035 | 3 | 227 | 0.0132 | -9 | c.358 others(24): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | ||||||
POF1B_chrX_85272396_85384665 | 85363710 | AATGTATA others(2): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0008 | a0001c0008t0014 | a0001c0008t0014g0013 | 1 | 227 | 0.0044 | -9 | c.357 others(26): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | ||||||
POF1B_chrX_85272396_85384665 | 85381984 | AAATATAA others(2): Show |
A | upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 227 | 0.0044 | -9 | c.-23 others(20): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 2320 | chrX | TogoVar | ||||||
POGLUT3_chr11_108467116_108503384 | 108498956 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG02027.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0139a0001c0001t0004g0007a0001c0001t0005g0004others(2): Show | 7 | 344 | 0.0204 | -9 | c.-59 others(18): Show |
POGLUT3 | ENSG00000178202.14 | transcript | ENST00000323468.10 | protein_coding | 573 | chr11 | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24738219 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 197 | 0.0051 | -9 | c.204 others(26): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
POLA1_chrX_24688918_25001986 | 24806053 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02738.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0003g0138 | 2 | 197 | 0.0102 | -9 | c.296 others(28): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
POLA1_chrX_24688918_25001986 | 24947246 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01952.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0056a0001c0001t0001g0100a0001c0001t0002g0195 | 3 | 197 | 0.0152 | -9 | c.426 others(30): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
POLA1_chrX_24688918_25001986 | 24951299 | GTTTGATC others(2): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 197 | 0.0051 | -9 | c.426 others(30): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
POLE2_chr14_49638555_49693214 | 49646302 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02895.hp1 others(5): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0003c0005t0002 | a0001c0002t0002g0030a0001c0002t0002g0031a0001c0002t0002g0157others(5): Show | 8 | 234 | 0.0342 | -9 | c.156 others(26): Show |
POLE2 | ENSG00000100479.14 | transcript | ENST00000216367.10 | protein_coding | 18/18 | chr14 | TogoVar | ||||||
POLE_chr12_132618762_132692342 | 132624854 | GAGGAGGC others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(48): Show |
a0001a0002a0005others(2): Show | a0001c0005a0002c0004a0002c0006others(5): Show | a0001c0005t0003a0001c0005t0004a0001c0005t0008others(7): Show | a0001c0005t0003g0178a0001c0005t0003g0179a0001c0005t0003g0183others(46): Show | 51 | 292 | 0.1747 | -9 | c.674 others(24): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 48/48 | chr12 | TogoVar | ||||||
POLE_chr12_132618762_132692342 | 132674888 | CCCTTCCC others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0006a0001c0008t0001g0051a0001c0008t0001g0052others(2): Show | 6 | 292 | 0.0206 | -9 | c.122 others(26): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 12/48 | chr12 | TogoVar | ||||||
POLK_chr5_75506891_75614991 | 75564254 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02280.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019a0001c0001t0036others(3): Show | a0001c0001t0008g0235a0001c0001t0019g0248a0001c0001t0019g0249others(7): Show | 10 | 356 | 0.0281 | -9 | c.256 others(26): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
POLN_chr4_2066918_2247121 | 2105804 | GTGATGAT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG03453.hp2 others(4): Show |
a0001a0002a0008 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0002a0002c0001t0001others(1): Show | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0043others(4): Show | 7 | 194 | 0.0361 | -9 | c.198 others(28): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 19/25 | chr4 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2210582 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02559.hp2 others(5): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0007 | a0001c0003t0002a0002c0001t0001a0004c0007t0001 | a0001c0003t0002g0184a0001c0003t0002g0193a0002c0001t0001g0088others(5): Show | 8 | 194 | 0.0412 | -9 | c.214 others(26): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 4/25 | chr4 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2210624 | TAATAATA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01257.hp2 others(33): Show |
a0001a0010 | a0001c0002a0001c0003a0001c0011others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0011t0001others(1): Show | a0001c0002t0001g0015a0001c0002t0001g0016a0001c0002t0001g0017others(33): Show | 36 | 194 | 0.1856 | -9 | c.214 others(26): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 4/25 | chr4 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2211250 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02145.hp1 others(11): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0007 | a0001c0003t0001a0001c0003t0002a0002c0001t0001others(1): Show | a0001c0003t0001g0065a0001c0003t0001g0075a0001c0003t0001g0078others(11): Show | 14 | 194 | 0.0722 | -9 | c.213 others(26): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 4/25 | chr4 | TogoVar | ||||||
POLQ_chr3_121426431_121550988 | 121501661 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01070.hp1 others(3): Show |
a0017a0018 | a0017c0019a0018c0018 | a0017c0019t0002a0018c0018t0002 | a0017c0019t0002g0307a0017c0019t0002g0308a0017c0019t0002g0310others(3): Show | 6 | 318 | 0.0189 | -9 | c.196 others(28): Show |
POLQ | ENSG00000051341.15 | transcript | ENST00000264233.6 | protein_coding | 12/29 | chr3 | TogoVar | ||||||
POLQ_chr3_121426431_121550988 | 121513600 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01070.hp1 others(3): Show |
a0017a0018 | a0017c0019a0018c0018 | a0017c0019t0002a0018c0018t0002 | a0017c0019t0002g0307a0017c0019t0002g0308a0017c0019t0002g0310others(3): Show | 6 | 318 | 0.0189 | -9 | c.146 others(28): Show |
POLQ | ENSG00000051341.15 | transcript | ENST00000264233.6 | protein_coding | 9/29 | chr3 | TogoVar | ||||||
POLR1B_chr2_112537465_112584818 | 112546544 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0030a0002c0002t0014a0002c0002t0021others(1): Show | a0001c0001t0030g0053a0002c0002t0014g0013a0002c0002t0014g0065others(2): Show | 7 | 384 | 0.0182 | -9 | c.178 others(24): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
POLR1B_chr2_112537465_112584818 | 112580082 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(69): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0011others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0016others(9): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0007others(42): Show | 72 | 384 | 0.1875 | -9 | c.*43 others(20): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 265 | chr2 | TogoVar | ||||||
POLR1D_chr13_27616892_27628449 | 27620496 | TCGCCGCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 9 | 438 | 0.0206 | -9 | c.-14 others(20): Show |
POLR1D | ENSG00000186184.20 | transcript | ENST00000302979.5 | protein_coding | 1395 | chr13 | TogoVar | ||||||
POLR1E_chr9_37480948_37508697 | 37503355 | ATCATTGA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02486.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015a0001c0001t0004g0016a0001c0001t0004g0017others(8): Show | 26 | 408 | 0.0637 | -9 | c.*15 others(18): Show |
POLR1E | ENSG00000137054.16 | transcript | ENST00000377798.9 | protein_coding | 12/12 | 157 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
POLR2B_chr4_56973896_57036158 | 56987401 | ACTCTTCT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(355): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(323): Show | 358 | 382 | 0.9372 | -9 | c.92+ others(22): Show |
POLR2B | ENSG00000047315.17 | transcript | ENST00000314595.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
POLR2E_chr19_1081574_1100375 | 1085532 | ATCTCTCC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp2 HG03471.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0101 | a0001c0001t0045g0125a0001c0001t0045g0297a0001c0001t0101g0278 | 3 | 442 | 0.0068 | -9 | c.*31 others(20): Show |
POLR2E | ENSG00000099817.12 | transcript | ENST00000615234.5 | protein_coding | 1041 | chr19 | TogoVar | ||||||
POLR2F_chr22_37948699_37974312 | 37951797 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02135.hp1 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0078others(3): Show | 7 | 404 | 0.0173 | -9 | c.-19 others(20): Show |
POLR2F | ENSG00000100142.16 | transcript | ENST00000442738.7 | protein_coding | 1901 | chr22 | TogoVar | ||||||
POLR2J_chr7_102468128_102483922 | 102481841 | TAGAGATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018 | a0001c0001t0008g0010a0001c0001t0018g0073 | 8 | 410 | 0.0195 | -9 | c.-29 others(20): Show |
POLR2J | ENSG00000005075.16 | transcript | ENST00000292614.10 | protein_coding | 2920 | chr7 | TogoVar | ||||||
POLR3A_chr10_77970149_78034515 | 77982038 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02523.hp2 NA18948.hp2 NA18966.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0026a0006c0017 | a0001c0001t0007a0001c0026t0007a0006c0017t0007 | a0001c0001t0007g0022a0001c0001t0007g0023a0001c0001t0007g0024others(3): Show | 6 | 374 | 0.0160 | -9 | c.375 others(26): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 28/30 | chr10 | TogoVar | ||||||
POLR3A_chr10_77970149_78034515 | 78031540 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0329a0001c0001t0001g0330a0001c0001t0001g0331others(3): Show | 6 | 374 | 0.0160 | -9 | c.-21 others(20): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 2026 | chr10 | TogoVar | ||||||
POLR3D_chr8_22240133_22259601 | 22244018 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(104): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0020others(20): Show | 107 | 432 | 0.2477 | -9 | c.-11 others(20): Show |
POLR3D | ENSG00000168495.13 | transcript | ENST00000306433.9 | protein_coding | 1114 | chr8 | TogoVar | ||||||
POLR3H_chr22_41520799_41549470 | 41521035 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG00738.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0054 | a0001c0001t0004g0039a0001c0001t0005g0004a0001c0001t0005g0157others(3): Show | 19 | 384 | 0.0495 | -9 | c.*82 others(20): Show |
POLR3H | ENSG00000100413.17 | transcript | ENST00000355209.9 | protein_coding | 4763 | chr22 | TogoVar | ||||||
POLR3K_chr16_41407_58608 | 46735 | TAAATAAA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 NA18954.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0023 | a0001c0001t0015g0029a0001c0001t0023g0220 | 3 | 432 | 0.0069 | -9 | c.*68 others(18): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 3/3 | 686 | chr16 | TogoVar | |||||
POM121C_chr7_75411786_75491299 | 75464856 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01071.hp2 others(7): Show |
a0006a0034 | a0006c0010a0006c0025a0034c0053 | a0006c0010t0006a0006c0010t0034a0006c0025t0006others(1): Show | a0006c0010t0006g0153a0006c0010t0006g0154a0006c0010t0006g0155others(7): Show | 10 | 308 | 0.0325 | -9 | c.-15 others(28): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
POM121L2_chr6_27303377_27317273 | 27304026 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp2 HG03486.hp1 NA20300.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0000 | 3 | 428 | 0.0070 | -9 | c.*50 others(20): Show |
POM121L2 | ENSG00000158553.5 | transcript | ENST00000444565.2 | protein_coding | 4350 | chr6 | TogoVar | ||||||
POMGNT1_chr1_46183683_46203434 | 46202921 | GTGTGTGT others(2): Show |
G | upstream_gene_variant | MODIFIER | NA18963.hp2 NA18975.hp1 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0011 | 3 | 406 | 0.0074 | -9 | c.-46 others(20): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 4488 | chr1 | TogoVar | ||||||
POMZP3_chr7_76604986_76632279 | 76620303 | GGGCAACA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0000a0004 | a0000c0002a0000c0004a0000c0005others(6): Show | a0000c0002t0002a0000c0002t0003a0000c0002t0004others(25): Show | a0000c0002t0002g0003a0000c0002t0002g0007a0000c0002t0002g0014others(183): Show | 212 | 423 | 0.5012 | -9 | c.228 others(26): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
PON1_chr7_95292676_95329532 | 95302113 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00738.hp2 others(64): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0066a0001c0001t0003g0001a0001c0001t0003g0007others(42): Show | 67 | 434 | 0.1544 | -9 | c.909 others(22): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 8/8 | chr7 | TogoVar | ||||||
POT1_chr7_124817386_124934825 | 124856445 | CATTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0107others(13): Show | 16 | 346 | 0.0462 | -9 | c.702 others(26): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 9/18 | chr7 | TogoVar | ||||||
POTEE_chr2_131204536_131270278 | 131217244 | AGTATACA others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02280.hp1 HG02602.hp2 others(9): Show |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0005a0001c0001t0013a0012c0016t0005 | a0001c0001t0005g0091a0001c0001t0005g0095a0001c0001t0005g0115others(9): Show | 12 | 288 | 0.0417 | -9 | c.-18 others(26): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
POTEE_chr2_131204536_131270278 | 131255564 | AGTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(194): Show |
a0001a0002a0005others(25): Show | a0001c0001a0001c0003a0001c0012others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0052a0001c0001t0001g0054others(190): Show | 197 | 288 | 0.6840 | -9 | c.177 others(28): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 16/17 | chr2 | TogoVar | ||||||
POTEF_chr2_130068535_130134222 | 130113526 | CGTTGTTG others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(76): Show |
a0001a0003a0006others(6): Show | a0001c0001a0001c0009a0001c0031others(14): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(17): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0009others(72): Show | 79 | 165 | 0.4788 | -9 | c.810 others(26): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | TogoVar | ||||||
POU1F1_chr3_87254404_87281584 | 87263148 | ATTGTTAT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01978.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027a0001c0001t0007g0043a0001c0001t0007g0061others(1): Show | 6 | 420 | 0.0143 | -9 | c.440 others(24): Show |
POU1F1 | ENSG00000064835.12 | transcript | ENST00000350375.7 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
POU2AF3_chr11_111293546_111313735 | 111301511 | ATGTGCAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(83): Show | 326 | 468 | 0.6966 | -9 | c.102 others(24): Show |
POU2AF3 | ENSG00000214290.9 | transcript | ENST00000610738.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2F1_chr1_167215886_167432340 | 167237763 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0130others(88): Show | 91 | 292 | 0.3116 | -9 | c.61+ others(26): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167237764 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01243.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0027others(4): Show | a0001c0001t0001g0127a0001c0001t0001g0144a0001c0001t0001g0145others(20): Show | 23 | 292 | 0.0788 | -9 | c.61+ others(26): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
POU2F1_chr1_167215886_167432340 | 167338113 | GCCTGCCT others(2): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp1 HG02257.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(26): Show | a0001c0001t0003g0116a0001c0001t0005g0276a0001c0001t0005g0277others(43): Show | 46 | 292 | 0.1575 | -9 | c.127 others(26): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
POU2F1_chr1_167215886_167432340 | 167357370 | CCCCCCCC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0135others(76): Show | 79 | 292 | 0.2706 | -9 | c.128 others(26): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |