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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNLDC1_chr6_159795276_159825704 | 159808907 | CACGCTGC others(6): Show |
C | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 400 | 0.0025 | -13 | c.639 others(26): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 8/18 | chr6 | TogoVar | |||||||
PNLIPRP3_chr10_116422847_116482957 | 116430584 | GGTTTTAA others(6): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02622.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0004a0005c0007t0007 | a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0182 others(5): Show |
9 | 288 | 0.0313 | -13 | c.49+ others(28): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNLIP_chr10_116540931_116572855 | 116566555 | TTATTCCA others(6): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0082 | 1 | 276 | 0.0036 | -13 | c.133 others(32): Show |
PNLIP | ENSG00000175535.6 | transcript | ENST00000369221.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNLIP_chr10_116540931_116572855 | 116569741 | GCATGCAA others(6): Show |
G | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 276 | 0.0036 | -13 | c.*19 others(24): Show |
PNLIP | ENSG00000175535.6 | transcript | ENST00000369221.2 | protein_coding | 1887 | chr10 | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153391114 | CCATGCAC others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0014 | a0014c0025 | a0014c0025t0018 | a0014c0025t0018g0063 | 1 | 346 | 0.0029 | -13 | c.*57 others(24): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4524 | chrX | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153394157 | TAAATTAC others(6): Show |
T | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0024 | a0024c0015 | a0024c0015t0043 | a0024c0015t0043g0115 | 1 | 346 | 0.0029 | -13 | c.*27 others(24): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 1481 | chrX | TogoVar | |||||||
PNMA6F_chrX_153312680_153326767 | 153321569 | ACGCTGCG others(6): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0058 | 1 | 331 | 0.0030 | -13 | c.-11 others(22): Show |
PNMA6F | ENSG00000225110.3 | transcript | ENST00000436629.3 | protein_coding | 1/2 | 896 | chrX | TogoVar | ||||||
PNMA8B_chr19_46486191_46500867 | 46498944 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01109.hp2 others(24): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 others(6): Show |
27 | 426 | 0.0634 | -13 | c.-34 others(24): Show |
PNMA8B | ENSG00000204851.7 | transcript | ENST00000599531.2 | protein_coding | 3078 | chr19 | TogoVar | |||||||
PNN_chr14_39170254_39188220 | 39184432 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 444 | 0.0023 | -13 | c.*25 others(24): Show |
PNN | ENSG00000100941.9 | transcript | ENST00000216832.9 | protein_coding | 1213 | chr14 | TogoVar | |||||||
PNPLA6_chr19_7530717_7566764 | 7540471 | ACAAGTAT others(6): Show |
A | intron_variant | MODIFIER | NA19060.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0210 | 1 | 416 | 0.0024 | -13 | c.715 others(28): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 5/31 | chr19 | TogoVar | |||||||
PNPLA6_chr19_7530717_7566764 | 7547811 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 416 | 0.0024 | -13 | c.160 others(32): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137503879 | AAAGAAGA others(6): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0147 | 1 | 188 | 0.0053 | -13 | c.147 others(32): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137503958 | GGAAGAAG others(6): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 |
a0005a0015 | a0005c0007a0015c0023 | a0005c0007t0002a0015c0023t0001 | a0005c0007t0002g0182 a0015c0023t0001g0178 |
2 | 188 | 0.0106 | -13 | c.147 others(32): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137504100 | AAGAAGAA others(6): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 188 | 0.0053 | -13 | c.147 others(32): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137551704 | CGAGCCCC others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03225.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0179 a0002c0004t0001g0180 |
2 | 188 | 0.0106 | -13 | c.-15 others(24): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1303 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137551718 | CGAGCCCC others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0023 | a0023c0055 | a0023c0055t0001 | a0023c0055t0001g0177 | 1 | 188 | 0.0053 | -13 | c.-15 others(24): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1317 | chr9 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505329 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0139 | 1 | 390 | 0.0026 | -13 | c.120 others(32): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505337 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG03669.hp2 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 a0001c0001t0003g0110 |
2 | 390 | 0.0051 | -13 | c.120 others(32): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505339 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG03239.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0343 a0001c0001t0003g0106 a0001c0001t0006g0113 |
3 | 390 | 0.0077 | -13 | c.120 others(32): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505342 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 390 | 0.0026 | -13 | c.120 others(32): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505346 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0056 |
2 | 390 | 0.0051 | -13 | c.120 others(32): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505350 | ATATTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 390 | 0.0026 | -13 | c.120 others(32): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505352 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA18944.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 2 | 390 | 0.0051 | -13 | c.120 others(32): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01192.hp2 HG02027.hp2 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0056 others(11): Show |
17 | 390 | 0.0436 | -13 | c.128 others(32): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55665628 | CACAACTC others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(1): Show |
4 | 390 | 0.0103 | -13 | c.117 others(32): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691863 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0169 | 1 | 390 | 0.0026 | -13 | c.161 others(30): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691865 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 390 | 0.0026 | -13 | c.161 others(30): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55694980 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01168.hp2 HG01169.hp1 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(11): Show | a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0161 others(60): Show |
63 | 390 | 0.1615 | -13 | c.-11 others(24): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1137 | chr2 | TogoVar | |||||||
PNRC1_chr6_89075751_89090160 | 89086498 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 396 | 0.0051 | -13 | c.*23 others(24): Show |
PNRC1 | ENSG00000146278.11 | transcript | ENST00000336032.4 | protein_coding | 1339 | chr6 | TogoVar | |||||||
POC1A_chr3_52070226_52159423 | 52135900 | GCCAGCTG others(6): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 286 | 0.0035 | -13 | c.813 others(30): Show |
POC1A | ENSG00000164087.8 | transcript | ENST00000296484.7 | protein_coding | 7/10 | chr3 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89491626 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 370 | 0.0027 | -13 | c.452 others(28): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89503109 | CTCTCTCC others(6): Show |
C | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 370 | 0.0027 | -13 | c.101 others(30): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
POC5_chr5_75669124_75722437 | 75676469 | AGGTCCCA others(6): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 380 | 0.0026 | -13 | c.158 others(32): Show |
POC5 | ENSG00000152359.15 | transcript | ENST00000428202.7 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
PODNL1_chr19_13926187_13943417 | 13927227 | GCACTGGA others(6): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 432 | 0.0023 | -13 | c.*44 others(24): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 3959 | chr19 | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85363366 | TCTGGTTG others(6): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03453.hp1 |
a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0025 a0005c0006t0004g0026 |
2 | 227 | 0.0088 | -13 | c.358 others(30): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119495225 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | NA18941.hp2 NA18951.hp1 NA19064.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0082 |
4 | 422 | 0.0095 | -13 | c.*27 others(24): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 518 | chr3 | TogoVar | |||||||
POGZ_chr1_151397724_151464494 | 151419668 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG03139.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 a0002c0004t0001g0188 a0002c0004t0001g0189 others(2): Show |
6 | 320 | 0.0188 | -13 | c.167 others(32): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 10/18 | chr1 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24806053 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01934.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0158 others(2): Show |
5 | 197 | 0.0254 | -13 | c.296 others(32): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24919796 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA18944.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0055 |
2 | 197 | 0.0102 | -13 | c.416 others(34): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24947246 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0187 a0001c0001t0001g0188 others(2): Show |
5 | 197 | 0.0254 | -13 | c.426 others(34): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLB_chr8_42333494_42376808 | 42343334 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 314 | 0.0032 | -13 | c.120 others(30): Show |
POLB | ENSG00000070501.12 | transcript | ENST00000265421.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
POLD1_chr19_50379347_50423014 | 50400133 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01255.hp2 HG02055.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 others(7): Show |
10 | 336 | 0.0298 | -13 | c.316 others(28): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
POLD1_chr19_50379347_50423014 | 50404847 | CAGGGGGC others(6): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01346.hp1 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0007a0001c0009others(11): Show | a0001c0005t0001a0001c0007t0001a0001c0009t0001others(11): Show | a0001c0005t0001g0108 a0001c0005t0001g0122 a0001c0005t0001g0123 others(42): Show |
47 | 336 | 0.1399 | -13 | c.124 others(32): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 10/26 | chr19 | TogoVar | |||||||
POLD1_chr19_50379347_50423014 | 50407725 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02572.hp1 others(8): Show |
a0003 | a0003c0006a0003c0012 | a0003c0006t0001a0003c0012t0001 | a0003c0006t0001g0020 a0003c0006t0001g0034 a0003c0006t0001g0035 others(8): Show |
11 | 336 | 0.0327 | -13 | c.177 others(30): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74595165 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(135): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 others(129): Show |
138 | 400 | 0.3450 | -13 | c.116 others(30): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609366 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01433.hp1 HG02300.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0001g0168 others(5): Show |
8 | 400 | 0.0200 | -13 | c.220 others(30): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609368 | ATATATTT others(6): Show |
A | intron_variant | MODIFIER | NA18950.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0153 |
2 | 400 | 0.0050 | -13 | c.220 others(30): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609370 | ATATTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03491.hp2 NA18522.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0151 a0001c0002t0001g0098 a0001c0002t0001g0109 |
3 | 400 | 0.0075 | -13 | c.220 others(30): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD4_chr11_67345772_67358546 | 67347634 | ATATATAT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 314 | 0.0032 | -13 | c.*43 others(24): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3137 | chr11 | TogoVar | |||||||
POLDIP2_chr17_28341633_28362527 | 28355611 | AAAAATAA others(6): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 | 1 | 340 | 0.0029 | -13 | c.243 others(28): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 2/10 | chr17 | TogoVar |