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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIGZ_chr3_196941356_196973833 | 196973810 | G | GCCCCGTC others(203): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0004 | a0004c0047 | a0004c0047t0001 | a0004c0047t0001g0253 | 1 | 310 | 0.0032 | 210 | c.-51 others(221): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 4978 | chr3 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130338250 | T | TTGCGGGG others(203): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 | 1 | 390 | 0.0026 | 210 | c.-13 others(225): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338277 | G | GGATGCAG others(203): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG02083.hp2 others(18): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0015 | a0001c0001t0007a0002c0003t0009a0002c0003t0012others(7): Show | a0001c0001t0007g0319 a0002c0003t0009g0245 a0002c0003t0012g0295 others(17): Show |
21 | 267 | 0.0787 | 210 | c.-13 others(225): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338426 | G | GCGAGGTC others(203): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0019others(7): Show | a0001c0001t0004g0008 a0001c0001t0004g0042 a0001c0001t0004g0043 others(37): Show |
47 | 383 | 0.1227 | 210 | c.-13 others(225): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338579 | G | GAGCCGGG others(203): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02027.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0034a0001c0002t0035a0001c0002t0052others(1): Show | a0001c0002t0034g0091 a0001c0002t0034g0092 a0001c0002t0035g0093 others(3): Show |
6 | 423 | 0.0142 | 210 | c.-13 others(225): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCTCCC others(203): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0030 | a0030c0069 | a0030c0069t0019 | a0030c0069t0019g0092 | 1 | 82 | 0.0122 | 210 | c.575 others(231): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981371 | C | CTCTCCCT others(203): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0063 | 1 | 131 | 0.0076 | 210 | c.575 others(231): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402043 | C | CCCCGCTC others(203): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 204 | 0.0049 | 210 | c.173 others(229): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976943 | C | CCCCGGGA others(203): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 HG03704.hp2 |
a0002a0019 | a0002c0002a0019c0035 | a0002c0002t0002a0019c0035t0002 | a0002c0002t0002g0090 a0019c0035t0002g0003 |
2 | 385 | 0.0052 | 210 | c.*23 others(221): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1079 | chr1 | TogoVar | |||||||
POLD1_chr19_50379347_50423014 | 50391089 | C | CTTCCAGA others(203): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0054 | 1 | 334 | 0.0030 | 210 | c.-2+ others(225): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP1R12B_chr1_202343699_202597702 | 202391570 | T | TTGAAGAT others(203): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0146 a0001c0001t0016g0142 |
2 | 13 | 0.1538 | 210 | c.292 others(229): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131952757 | G | GGGGGGTT others(203): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0053 | a0001c0001t0008g0166 a0001c0001t0053g0171 |
2 | 391 | 0.0051 | 210 | c.108 others(229): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(203): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170 | 1 | 210 | 0.0048 | 210 | c.227 others(227): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(203): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0028a0001c0001t0056a0001c0001t0072others(4): Show | a0001c0001t0028g0126 a0001c0001t0056g0204 a0001c0001t0072g0008 others(4): Show |
7 | 128 | 0.0547 | 210 | c.387 others(229): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(203): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0203 a0001c0001t0022g0040 |
2 | 123 | 0.0163 | 210 | c.387 others(229): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(203): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03239.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0058 a0001c0002t0002g0091 |
2 | 123 | 0.0163 | 210 | c.387 others(229): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(203): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0002 | a0001c0001t0001g0125 a0001c0008t0002g0059 |
2 | 123 | 0.0163 | 210 | c.387 others(229): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(203): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0101 | 1 | 122 | 0.0082 | 210 | c.387 others(229): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212653 | C | CGGTCCTC others(203): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0162 | 1 | 192 | 0.0052 | 210 | c.387 others(229): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212662 | C | CGCTCATC others(203): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0039 | a0001c0006t0039g0140 | 1 | 208 | 0.0048 | 210 | c.387 others(229): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3379865 | C | CTCATCCC others(203): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0023others(1): Show | a0001c0001t0001g0203 a0001c0001t0022g0040 a0001c0001t0023g0072 others(1): Show |
4 | 128 | 0.0313 | 210 | c.439 others(227): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722007 | C | CTAGTGGT others(203): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0004t0001 | a0001c0002t0005g0372 a0001c0004t0001g0025 |
2 | 187 | 0.0107 | 210 | c.360 others(225): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722211 | G | GTGGTGGT others(203): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0278 | 1 | 322 | 0.0031 | 210 | c.360 others(225): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66798407 | A | ATGGTGGT others(203): Show |
intron_variant | MODIFIER | HG03688.hp2 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0014 a0001c0002t0004g0019 |
2 | 164 | 0.0122 | 210 | c.185 others(229): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66798794 | A | ATGGTGGT others(203): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0056 | 1 | 122 | 0.0082 | 210 | c.185 others(229): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23981846 | C | CCCCTTCA others(203): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0066 | 1 | 140 | 0.0071 | 210 | c.206 others(227): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24113243 | A | ACTTGCTT others(203): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0012 | a0001c0012t0024 | a0001c0012t0024g0022 | 1 | 133 | 0.0075 | 210 | c.918 others(225): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24113243 | A | ACTTGCTT others(203): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0017a0001c0001t0056a0001c0001t0079others(4): Show | a0001c0001t0017g0087 a0001c0001t0056g0109 a0001c0001t0079g0142 others(4): Show |
7 | 139 | 0.0504 | 210 | c.918 others(225): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123053 | G | GGTAGTTA others(203): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02080.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 a0001c0002t0001g0100 |
2 | 160 | 0.0125 | 210 | c.335 others(229): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161846 | C | CCATCCTC others(203): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 270 | 0.0037 | 210 | c.259 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161882 | G | GTCCCCAC others(203): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 others(3): Show |
6 | 277 | 0.0217 | 210 | c.259 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162033 | G | GTCCCCGT others(203): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0227 | 1 | 374 | 0.0027 | 210 | c.260 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162079 | T | TCGTCCCT others(203): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0205 | 1 | 36 | 0.0278 | 210 | c.260 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162092 | C | CTCCCCAC others(203): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 2 | 308 | 0.0065 | 210 | c.260 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162182 | A | ACATCCTC others(203): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01346.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 |
3 | 340 | 0.0088 | 210 | c.260 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162345 | T | TCCTCACA others(203): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 369 | 0.0027 | 210 | c.260 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162513 | T | TCCCCACA others(203): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 361 | 0.0028 | 210 | c.260 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162554 | C | CTCCCCCC others(203): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 353 | 0.0028 | 210 | c.260 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162686 | A | ACATCCTC others(203): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03516.hp1 |
a0001a0004 | a0001c0008a0004c0007 | a0001c0008t0005a0004c0007t0002 | a0001c0008t0005g0201 a0004c0007t0002g0226 |
2 | 320 | 0.0063 | 210 | c.260 others(225): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61885680 | T | TCCTCTCC others(203): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 16 | 0.0625 | 210 | c.191 others(231): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1719975 | A | AGAGGGAG others(203): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 215 | 0.0047 | 210 | c.200 others(229): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(203): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0007 | a0004c0007t0022 | a0004c0007t0022g0067 | 1 | 167 | 0.0060 | 210 | c.126 others(229): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504258 | A | ACCCCCTC others(203): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0014 | a0001c0014t0040 | a0001c0014t0040g0112 | 1 | 283 | 0.0035 | 210 | c.139 others(229): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB7B_chr1_205971740_206008395 | 205973119 | C | CACATACC others(203): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(212): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(179): Show |
215 | 269 | 0.7993 | 210 | c.*57 others(221): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 3620 | chr1 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099906 | C | CCCCCACA others(203): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0030 | 1 | 51 | 0.0196 | 210 | c.56- others(227): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(203): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 174 | 0.0057 | 210 | c.66+ others(225): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RECQL4_chr8_144506288_144522833 | 144513791 | C | CGTGGGGA others(203): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01934.hp1 HG01993.hp2 others(4): Show |
a0003a0007a0041 | a0003c0003a0007c0009a0041c0041 | a0003c0003t0001a0007c0009t0001a0041c0041t0001 | a0003c0003t0001g0028 a0003c0003t0001g0071 a0007c0009t0001g0026 others(1): Show |
7 | 339 | 0.0206 | 210 | c.205 others(225): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar | |||||||
RECQL4_chr8_144506288_144522833 | 144513800 | T | TGAGGAGG others(203): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0012 | a0012c0063 | a0012c0063t0001 | a0012c0063t0001g0230 | 1 | 221 | 0.0045 | 210 | c.205 others(225): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar | |||||||
RECQL4_chr8_144506288_144522833 | 144513800 | T | TGAGGAGG others(203): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0229 | 1 | 221 | 0.0045 | 210 | c.205 others(225): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar | |||||||
RECQL4_chr8_144506288_144522833 | 144513834 | A | GAGGGGTC others(203): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0113 a0007c0009t0001g0237 |
2 | 200 | 0.0100 | 210 | c.205 others(222): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar |