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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUDCD1_chr8_109235919_109339087 | 109337068 | T | TCATTTAA others(308): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0161 | 1 | 360 | 0.0028 | 315 | c.-30 others(326): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2982 | chr8 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56808366 | T | TATAACTA others(308): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 378 | 0.0027 | 315 | c.489 others(332): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | chr16 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56808423 | A | ATAAAATA others(308): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 378 | 0.0027 | 315 | c.489 others(332): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56808448 | A | ATATAAAA others(308): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0111 | 1 | 378 | 0.0027 | 315 | c.489 others(332): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OAF_chr11_120206032_120235334 | 120223394 | T | TAAAAAGG others(308): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 400 | 0.0025 | 315 | c.232 others(332): Show |
OAF | ENSG00000184232.9 | transcript | ENST00000328965.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64094296 | G | GGGGGGCA others(308): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02074.hp1 HG02165.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0041 others(2): Show |
5 | 66 | 0.0758 | 315 | c.233 others(332): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107942 | T | TAATATAA others(308): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0020 a0001c0001t0006g0020 |
2 | 227 | 0.0088 | 315 | c.-55 others(330): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OS9_chr12_57689132_57726557 | 57689483 | C | CATTATAG others(308): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(97): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(82): Show |
100 | 352 | 0.2841 | 315 | c.-46 others(326): Show |
OS9 | ENSG00000135506.17 | transcript | ENST00000315970.12 | protein_coding | 4648 | chr12 | TogoVar | |||||||
OS9_chr12_57689132_57726557 | 57689483 | C | CATTATAG others(308): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 352 | 0.0028 | 315 | c.-46 others(326): Show |
OS9 | ENSG00000135506.17 | transcript | ENST00000315970.12 | protein_coding | 4648 | chr12 | TogoVar | |||||||
OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(308): Show |
stop_gained others(1): Show |
HIGH | HG03579.hp2 | a0026 | a0026c0037 | a0026c0037t0004 | a0026c0037t0004g0244 | 1 | 476 | 0.0021 | 315 | c.117 others(324): Show |
p.Leu others(328): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | |||
OXR1_chr8_106265190_106757694 | 106452882 | A | ACTAAATT others(308): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 172 | 0.0058 | 315 | c.24- others(332): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106476019 | G | GCTTTCAC others(308): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02647.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0071 a0001c0001t0001g0131 a0001c0001t0001g0169 others(11): Show |
14 | 172 | 0.0814 | 315 | c.24- others(332): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PAAF1_chr11_73871999_73936114 | 73872336 | T | TCTTCTCC others(308): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG02809.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0034 | a0001c0001t0013g0257 a0001c0001t0013g0259 a0001c0001t0013g0260 others(1): Show |
4 | 370 | 0.0108 | 315 | c.-46 others(326): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 4662 | chr11 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66240777 | T | TTAATCTT others(308): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG02074.hp2 others(15): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 others(15): Show |
18 | 322 | 0.0559 | 315 | c.243 others(332): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66240777 | T | TTAATCTT others(308): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 322 | 0.0031 | 315 | c.243 others(332): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PADI2_chr1_17061761_17124451 | 17114628 | T | TAAGAAAC others(308): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0009 | 2 | 356 | 0.0056 | 315 | c.92+ others(330): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
PARD6G_chr18_80152232_80252514 | 80250865 | A | AGCCTGTA others(308): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0019 | 1 | 382 | 0.0026 | 315 | c.-35 others(326): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 3352 | chr18 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122726893 | T | TAATTTTA others(308): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 366 | 0.0027 | 315 | c.494 others(332): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746360 | T | TTGTCAGC others(308): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 292 | 0.0034 | 315 | c.-16 others(334): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746360 | T | TTGTCAGC others(308): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0281 | 1 | 292 | 0.0034 | 315 | c.-16 others(334): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746360 | T | TTGTCAGC others(308): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 a0001c0001t0003g0096 |
2 | 292 | 0.0069 | 315 | c.-16 others(334): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92301721 | G | GCAGCTTC others(308): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02965.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0023a0001c0002t0002a0001c0003t0002 | a0001c0001t0023g0013 a0001c0002t0002g0011 a0001c0003t0002g0143 |
3 | 154 | 0.0195 | 315 | c.314 others(336): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92301721 | G | GCAGCTTC others(308): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0045 | 1 | 154 | 0.0065 | 315 | c.314 others(336): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233206359 | C | CAAAAAGA others(308): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18982.hp2 |
a0001a0002 | a0001c0009a0002c0011 | a0001c0009t0001a0002c0011t0012 | a0001c0009t0001g0078 a0002c0011t0012g0095 |
2 | 146 | 0.0137 | 315 | c.286 others(334): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 13/33 | chr1 | TogoVar | |||||||
PCNX4_chr14_60086923_60153221 | 60108768 | A | AATATTGA others(308): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(104): Show |
a0001a0006a0009others(2): Show | a0001c0001a0001c0023a0001c0030others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(68): Show |
107 | 308 | 0.3474 | 315 | c.689 others(330): Show |
PCNX4 | ENSG00000126773.13 | transcript | ENST00000406854.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76337136 | G | GAAGAATA others(308): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0013 | a0001c0013t0023 | a0001c0013t0023g0137 | 1 | 166 | 0.0060 | 315 | c.474 others(334): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77395390 | T | TAGGCGTG others(308): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0238 | 1 | 314 | 0.0032 | 315 | c.116 others(334): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77420370 | T | TAAAACCT others(308): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0232 | 1 | 314 | 0.0032 | 315 | c.225 others(332): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26751417 | G | GAAAGAAT others(308): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02074.hp1 HG02145.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0086 others(7): Show |
10 | 416 | 0.0240 | 315 | c.*49 others(326): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4620 | chr10 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741315 | G | GGGGGGCT others(308): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 358 | 0.0028 | 315 | c.143 others(330): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43742482 | T | TGGTTTCT others(308): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0073 | a0001c0002t0073g0293 | 1 | 358 | 0.0028 | 315 | c.247 others(330): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674362 | T | TCCCCTTC others(308): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0244 | 1 | 250 | 0.0040 | 315 | c.119 others(334): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674397 | T | TCCTTCTC others(308): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0167 a0001c0001t0005g0168 |
2 | 250 | 0.0080 | 315 | c.119 others(334): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28395818 | A | ATTTTTTT others(308): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0142 | 1 | 228 | 0.0044 | 315 | c.-38 others(334): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28395818 | A | ATTTTTTT others(308): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG03516.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0048 | a0002c0002t0007g0001 a0002c0002t0007g0003 a0002c0002t0007g0123 others(2): Show |
5 | 228 | 0.0219 | 315 | c.-38 others(334): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28395818 | A | ATTTTTTT others(308): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01123.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0015 | a0002c0002t0002g0149 a0002c0002t0002g0155 a0002c0002t0002g0160 others(4): Show |
7 | 228 | 0.0307 | 315 | c.-38 others(334): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28395818 | A | ATTTTTTT others(308): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0210 | 1 | 228 | 0.0044 | 315 | c.-38 others(334): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59225143 | T | TAAGAAAT others(308): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 202 | 0.0050 | 315 | c.107 others(332): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10911130 | G | GAAATTAC others(308): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0088 | a0001c0088t0001 | a0001c0088t0001g0130 | 1 | 158 | 0.0063 | 315 | c.329 others(328): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77168629 | T | TAAAATTG others(308): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0325 | 1 | 366 | 0.0027 | 315 | c.375 others(330): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62046486 | A | AGGTTGTG others(308): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 342 | 0.0059 | 315 | c.267 others(332): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15401360 | G | GTAAACCT others(308): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 272 | 0.0037 | 315 | c.611 others(332): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401971 | G | GACCCGCT others(308): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 216 | 0.0046 | 315 | c.173 others(334): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCL1_chr2_197799593_198154863 | 197898724 | T | TTTCCTAG others(308): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02148.hp2 HG02738.hp2 others(2): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0005a0002c0002t0001a0002c0002t0005 | a0001c0005t0005g0062 a0002c0002t0001g0082 a0002c0002t0001g0092 others(2): Show |
5 | 204 | 0.0245 | 315 | c.240 others(334): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCL1_chr2_197799593_198154863 | 198090384 | T | TTTCTGTA others(308): Show |
intron_variant | MODIFIER | HG00323.hp1 NA18995.hp2 |
a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0029 a0001c0003t0027g0032 |
2 | 204 | 0.0098 | 315 | c.291 others(334): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204269327 | C | CAGAAACC others(308): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 a0001c0001t0003g0096 |
2 | 270 | 0.0074 | 315 | c.103 others(332): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 167490 | T | TAAGGAGG others(308): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0009 | a0003c0009t0120 | a0003c0009t0120g0013 | 1 | 210 | 0.0048 | 315 | c.347 others(334): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56530360 | T | TCAGCCTA others(308): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01070.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0100 others(17): Show |
20 | 336 | 0.0595 | 315 | c.298 others(332): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56530360 | T | TCAGCCTA others(308): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp1 others(95): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0179 a0001c0001t0002g0071 a0001c0001t0002g0126 others(94): Show |
98 | 336 | 0.2917 | 315 | c.298 others(332): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56530360 | T | TCAGCCTA others(308): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 336 | 0.0030 | 315 | c.298 others(332): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 2/5 | chr1 | TogoVar |