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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(45): Show |
48 | 266 | 0.1805 | -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 | a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 others(28): Show |
33 | 51 | 0.6471 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0003g0001 others(6): Show |
26 | 72 | 0.3611 | -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 | a0001c0001t0002g0055 a0001c0001t0002g0074 a0001c0001t0004g0032 others(13): Show |
20 | 185 | 0.1081 | -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 | a0001c0002a0004c0007a0004c0013 | a0001c0002t0004a0004c0007t0001a0004c0013t0003 | a0001c0002t0004g0026 a0004c0007t0001g0039 a0004c0013t0003g0040 |
3 | 225 | 0.0133 | -9 | c.358 others(24): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | 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 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0126 a0001c0001t0004g0006 a0001c0001t0005g0004 others(2): Show |
7 | 67 | 0.1045 | -9 | c.-59 others(18): Show |
POGLUT3 | ENSG00000178202.14 | transcript | ENST00000323468.10 | protein_coding | 573 | chr11 | TogoVar | |||||||
POLE2_chr14_49638555_49693214 | 49646302 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0002c0005t0002 | a0001c0002t0002g0003 a0001c0002t0002g0171 a0001c0002t0002g0172 others(3): Show |
8 | 83 | 0.0964 | -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 |
a0001a0002a0007others(2): Show | a0001c0005a0002c0004a0002c0006others(5): Show | a0001c0005t0003a0001c0005t0004a0001c0005t0008others(7): Show | a0001c0005t0003g0012 a0001c0005t0003g0171 a0001c0005t0003g0177 others(44): Show |
51 | 290 | 0.1759 | -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 | a0001c0008t0001g0009 a0001c0008t0001g0051 a0001c0008t0001g0052 others(2): Show |
6 | 290 | 0.0207 | -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 | a0001c0001t0008g0235 a0001c0001t0019g0249 a0001c0001t0019g0250 others(7): Show |
10 | 354 | 0.0282 | -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 |
a0001a0002a0009 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0002a0002c0001t0001others(1): Show | a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 others(4): Show |
7 | 79 | 0.0886 | -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 | a0001c0003t0002g0184 a0001c0003t0002g0193 a0002c0001t0001g0088 others(5): Show |
8 | 125 | 0.0640 | -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 |
a0001a0008 | a0001c0002a0001c0003a0001c0011others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0011t0001others(1): Show | a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 others(33): Show |
36 | 192 | 0.1875 | -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 | a0001c0003t0001g0065 a0001c0003t0001g0075 a0001c0003t0001g0077 others(11): Show |
14 | 64 | 0.2188 | -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 |
a0014a0015 | a0014c0019a0015c0018 | a0014c0019t0002a0015c0018t0002 | a0014c0019t0002g0305 a0014c0019t0002g0306 a0014c0019t0002g0308 others(3): Show |
6 | 81 | 0.0741 | -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 |
a0014a0015 | a0014c0019a0015c0018 | a0014c0019t0002a0015c0018t0002 | a0014c0019t0002g0305 a0014c0019t0002g0306 a0014c0019t0002g0308 others(3): Show |
6 | 71 | 0.0845 | -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 | a0001c0001t0030g0052 a0002c0002t0014g0016 a0002c0002t0014g0063 others(2): Show |
7 | 17 | 0.4118 | -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 | a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 others(41): Show |
72 | 157 | 0.4586 | -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 | 424 | 0.0212 | -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 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(8): Show |
26 | 406 | 0.0640 | -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(354): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(319): Show |
357 | 380 | 0.9395 | -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 | a0001c0001t0045g0120 a0001c0001t0045g0235 a0001c0001t0101g0218 |
3 | 440 | 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 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0078 others(3): Show |
7 | 93 | 0.0753 | -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 | a0001c0001t0008g0010 a0001c0001t0018g0068 |
8 | 408 | 0.0196 | -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 |
a0001a0005 | a0001c0001a0001c0026a0005c0017 | a0001c0001t0007a0001c0026t0007a0005c0017t0007 | a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 others(3): Show |
6 | 193 | 0.0311 | -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 | a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 others(3): Show |
6 | 372 | 0.0161 | -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 |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(20): Show |
107 | 293 | 0.3652 | -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 | a0001c0001t0004a0001c0001t0005a0001c0001t0051 | a0001c0001t0004g0040 a0001c0001t0005g0004 a0001c0001t0005g0155 others(3): Show |
19 | 269 | 0.0706 | -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 | a0001c0001t0009a0001c0001t0014 | a0001c0001t0009g0033 a0001c0001t0014g0165 |
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 |
a0006a0029 | a0006c0010a0006c0025a0029c0053 | a0006c0010t0006a0006c0010t0034a0006c0025t0006others(1): Show | a0006c0010t0006g0153 a0006c0010t0006g0154 a0006c0010t0006g0155 others(7): Show |
10 | 50 | 0.2000 | -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 | 424 | 0.0071 | -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 | a0001c0002t0001g0002 a0001c0002t0001g0011 |
3 | 383 | 0.0078 | -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(208): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0007a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(25): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show |
211 | 422 | 0.5000 | -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 | a0001c0001t0001g0069 a0001c0001t0003g0001 a0001c0001t0003g0008 others(41): Show |
67 | 432 | 0.1551 | -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 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(13): Show |
16 | 344 | 0.0465 | -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 | a0001c0001t0005g0011 a0001c0001t0005g0095 a0001c0001t0005g0099 others(8): Show |
12 | 286 | 0.0420 | -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(193): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0015others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(181): Show |
196 | 278 | 0.7050 | -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 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(72): Show |
79 | 158 | 0.5000 | -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 | a0001c0001t0007g0026 a0001c0001t0007g0042 a0001c0001t0007g0061 others(1): Show |
6 | 418 | 0.0144 | -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(322): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(82): Show |
325 | 466 | 0.6974 | -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 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0132 others(88): Show |
91 | 288 | 0.3160 | -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 | a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0146 others(20): Show |
23 | 278 | 0.0827 | -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 | a0001c0001t0003g0116 a0001c0001t0005g0275 a0001c0001t0005g0276 others(43): Show |
46 | 290 | 0.1586 | -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(75): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(75): Show |
78 | 290 | 0.2690 | -9 | c.128 others(26): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
POU3F3_chr2_104849115_104863574 | 104863159 | AATTATTA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01261.hp1 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0002g0000 others(1): Show |
7 | 108 | 0.0648 | -9 | c.*61 others(20): Show |
POU3F3 | ENSG00000198914.5 | transcript | ENST00000361360.4 | protein_coding | 4586 | chr2 | TogoVar | |||||||
POU4F2_chr4_146633893_146647474 | 146639305 | TGGCGGCG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG01167.hp2 HG01169.hp2 others(37): Show |
a0003a0008 | a0003c0003a0003c0013a0008c0009 | a0003c0003t0003a0003c0003t0004a0003c0003t0015others(3): Show | a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0004g0002 others(4): Show |
40 | 146 | 0.2740 | -9 | c.192 others(16): Show |
p.Gly others(11): Show |
POU4F2 | ENSG00000151615.3 | transcript | ENST00000281321.3 | protein_coding | 1/2 | 440/3144 | 192/1230 | 64/409 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
POU6F1_chr12_51181936_51223062 | 51212065 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00738.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(4): Show | a0001c0001t0001g0075 a0001c0001t0002g0145 a0001c0001t0015g0110 others(9): Show |
12 | 436 | 0.0275 | -9 | c.-47 others(26): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39015835 | ATAATATA others(2): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0013 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0005t0013g0080 others(1): Show |
4 | 168 | 0.0238 | -9 | c.105 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39016007 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01070.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0039 a0001c0001t0002g0032 a0001c0001t0002g0068 others(19): Show |
22 | 168 | 0.1310 | -9 | c.105 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39016056 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG02300.hp1 others(7): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 others(7): Show |
10 | 168 | 0.0595 | -9 | c.105 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |