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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPL_chr16_4877507_4942148 | 4913020 | CTTGAACC others(28): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 372 | 0.0027 | -35 | c.63- others(50): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | ||||||
PPM1A_chr14_60244221_60304087 | 60251899 | AACAAGCA others(28): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0170a0001c0001t0026g0171 | 2 | 268 | 0.0075 | -35 | c.-21 others(52): Show |
PPM1A | ENSG00000100614.18 | transcript | ENST00000395076.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PPM1L_chr3_160751231_161083902 | 160954921 | TTCTTTCC others(28): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG01433.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0012a0001c0001t0002g0018a0001c0001t0002g0103others(20): Show | 23 | 206 | 0.1117 | -35 | c.400 others(52): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38905154 | ATATTTAT others(28): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0139 | 1 | 244 | 0.0041 | -35 | c.697 others(50): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 6/10 | chr20 | TogoVar | ||||||
PPP1R1C_chr2_181980853_182122756 | 182076181 | CTTTTTTT others(28): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0034a0001c0002t0001g0065a0001c0002t0001g0092others(4): Show | 7 | 344 | 0.0204 | -35 | c.241 others(54): Show |
PPP1R1C | ENSG00000150722.11 | transcript | ENST00000682840.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131952568 | CTAGTGAC others(28): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG01361.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0045a0001c0001t0077 | a0001c0001t0002g0033a0001c0001t0002g0324a0001c0001t0002g0327others(4): Show | 8 | 394 | 0.0203 | -35 | c.108 others(54): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131953322 | CGGGGGTT others(28): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(141): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(54): Show | a0001c0001t0003g0015a0001c0001t0003g0037a0001c0001t0003g0074others(132): Show | 144 | 394 | 0.3655 | -35 | c.108 others(54): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R5D_chr6_42979570_43017342 | 42998039 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 306 | 0.0033 | -35 | c.105 others(52): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP3CA_chr4_101018418_101352526 | 101106441 | GAAAGAAA others(28): Show |
G | intron_variant | MODIFIER | HG00140.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0023a0001c0001t0013g0177 | 2 | 192 | 0.0104 | -35 | c.384 others(52): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46389361 | AAACACAC others(28): Show |
A | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 394 | 0.0025 | -35 | c.135 others(52): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP5C_chr19_46342087_46395975 | 46389424 | CACACACA others(28): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0204 | 2 | 394 | 0.0051 | -35 | c.135 others(52): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | chr19 | TogoVar | ||||||
PPTC7_chr12_110528245_110588318 | 110585457 | AGAATCCT others(28): Show |
A | upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 328 | 0.0031 | -35 | c.-24 others(46): Show |
PPTC7 | ENSG00000196850.6 | transcript | ENST00000354300.5 | protein_coding | 2140 | chr12 | TogoVar | ||||||
PRAME_chr22_22542701_22564265 | 22558050 | GGGGGAGG others(28): Show |
G | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 399 | 0.0025 | -35 | c.-11 others(52): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
PRAME_chr22_22542701_22564265 | 22558056 | GGGGTGGG others(28): Show |
G | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 399 | 0.0025 | -35 | c.-11 others(52): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
PRB2_chr12_11386540_11400567 | 11387200 | TTTGCTGG others(28): Show |
T | downstream_gene_variant | MODIFIER | NA18944.hp1 | a0013 | a0013c0037 | a0013c0037t0002 | a0013c0037t0002g0082 | 1 | 410 | 0.0024 | -35 | c.*44 others(46): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 4339 | chr12 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41844729 | CACACACA others(28): Show |
C | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0028 | a0001c0028t0041 | a0001c0028t0041g0368 | 1 | 406 | 0.0025 | -35 | c.640 others(52): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856073 | CCCTTCCT others(28): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0006 | a0006c0039 | a0006c0039t0036 | a0006c0039t0036g0054 | 1 | 406 | 0.0025 | -35 | c.285 others(52): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856167 | CTCCCTTC others(28): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA18977.hp1 |
a0001 | a0001c0019 | a0001c0019t0022 | a0001c0019t0022g0069a0001c0019t0022g0070 | 2 | 406 | 0.0049 | -35 | c.285 others(51): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856169 | CCCTTCCT others(28): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0211 | 1 | 406 | 0.0025 | -35 | c.285 others(51): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212618 | AGGTCCTC others(28): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0164 | 1 | 210 | 0.0048 | -35 | c.387 others(54): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM7_chr16_90051566_90082331 | 90052466 | TTCTCTGT others(28): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(124): Show | 235 | 392 | 0.5995 | -35 | c.*57 others(46): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 4099 | chr16 | TogoVar | ||||||
PRDM7_chr16_90051566_90082331 | 90052641 | ATCTCTGT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0154 | 1 | 392 | 0.0026 | -35 | c.*56 others(46): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 3924 | chr16 | TogoVar | ||||||
PRDM7_chr16_90051566_90082331 | 90052746 | TTCTCTGT others(28): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0007a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(51): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(168): Show | 343 | 392 | 0.8750 | -35 | c.*55 others(46): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 3819 | chr16 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93722007 | CTAGTGGT others(28): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01081.hp1 HG01175.hp1 others(33): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0031others(5): Show | a0001c0002t0001g0037a0001c0002t0001g0046a0001c0002t0001g0122others(32): Show | 36 | 397 | 0.0907 | -35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93722106 | GTGGTGGT others(28): Show |
G | intron_variant | MODIFIER | NA18987.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120a0001c0001t0003g0169 | 2 | 397 | 0.0050 | -35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93722316 | GTGGTGGT others(28): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG03239.hp2 NA18940.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(3): Show | a0001c0001t0002g0011a0001c0001t0002g0050a0001c0001t0002g0098others(10): Show | 14 | 397 | 0.0353 | -35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151841950 | GGTAGTGA others(28): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 252 | 0.0040 | -35 | c.114 others(54): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23866968 | CCCTTCCT others(28): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0017 | a0002c0017t0027 | a0002c0017t0027g0077 | 1 | 148 | 0.0068 | -35 | c.205 others(54): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24049316 | CCCTTAAC others(28): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG03486.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0023a0001c0009t0067 | a0001c0002t0023g0079a0001c0009t0067g0012 | 2 | 148 | 0.0135 | -35 | c.529 others(54): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 45744465 | CTTTCTTT others(28): Show |
C | intron_variant | MODIFIER | HG00280.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0011t0001 | a0001c0001t0003g0039a0001c0011t0001g0144 | 2 | 168 | 0.0119 | -35 | c.348 others(54): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 45744500 | TTTTCTTT others(28): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00609.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0081others(28): Show | 31 | 168 | 0.1845 | -35 | c.348 others(54): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 46089692 | ACTTGCAT others(28): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02976.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012 | a0001c0001t0002g0049a0001c0001t0004g0099a0001c0001t0012g0025 | 3 | 168 | 0.0179 | -35 | c.159 others(54): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2124045 | GGCGGCGG others(28): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 286 | 0.0035 | -35 | c.335 others(54): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKN_chr6_161342417_162732766 | 161573740 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03209.hp2 |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0003c0006t0003 | a0001c0003t0001g0032a0003c0006t0003g0004 | 2 | 32 | 0.0625 | -35 | c.872 others(52): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161573742 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 32 | 0.0313 | -35 | c.872 others(52): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161978016 | GTATTTTA others(28): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 32 | 0.0313 | -35 | c.619 others(52): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162450316 | CGTGAATG others(28): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02602.hp2 HG03704.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0028a0001c0001t0004g0029a0001c0001t0006g0003others(1): Show | 4 | 32 | 0.1250 | -35 | c.8-6 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162450370 | GTGATTGT others(28): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 32 | 0.0313 | -35 | c.8-6 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
PROK1_chr1_110446149_110462358 | 110458039 | CTTTTTTT others(28): Show |
C | downstream_gene_variant | MODIFIER | HG01952.hp1 HG02132.hp2 NA18747.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 10 | 456 | 0.0219 | -35 | c.*16 others(46): Show |
PROK1 | ENSG00000143125.6 | transcript | ENST00000271331.4 | protein_coding | 682 | chr1 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11840938 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03209.hp2 |
a0003 | a0003c0004 | a0003c0004t0011a0003c0004t0028 | a0003c0004t0011g0155a0003c0004t0028g0234 | 2 | 348 | 0.0058 | -35 | c.-81 others(54): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PROSER2_chr10_11818356_11877277 | 11840940 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0026a0001c0019t0010 | a0001c0001t0026g0005a0001c0019t0010g0240 | 2 | 348 | 0.0058 | -35 | c.-81 others(54): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PROSER2_chr10_11818356_11877277 | 11840942 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03453.hp2 |
a0003a0012 | a0003c0006a0012c0013 | a0003c0006t0010a0012c0013t0010 | a0003c0006t0010g0327a0012c0013t0010g0328 | 2 | 348 | 0.0058 | -35 | c.-81 others(54): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRR16_chr5_120459300_120692314 | 120491417 | CCCTTTCC others(28): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0125a0001c0001t0001g0134others(12): Show | 15 | 170 | 0.0882 | -35 | c.159 others(54): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703881 | TTTTTTTT others(28): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19030.hp2 NA19240.hp2 NA20129.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0023a0001c0001t0063a0003c0003t0023 | a0001c0001t0023g0021a0001c0001t0063g0026a0003c0003t0023g0003 | 3 | 336 | 0.0089 | -35 | c.*28 others(46): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2850 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PRRG3_chrX_151690458_151710924 | 151703883 | TTTTTTTT others(28): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0003 | 1 | 336 | 0.0030 | -35 | c.*28 others(46): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2852 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PRRT4_chr7_128345325_128366690 | 128345587 | AACTTTAC others(28): Show |
A | downstream_gene_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0005 | 1 | 448 | 0.0022 | -35 | c.*52 others(46): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 4737 | chr7 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202432 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 378 | 0.0027 | -35 | c.869 others(52): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73202434 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 | 1 | 378 | 0.0027 | -35 | c.869 others(52): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMA8_chr18_26128869_26198355 | 26152769 | AATACCAA others(28): Show |
A | intron_variant | MODIFIER | HG02809.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0035 | 2 | 268 | 0.0075 | -35 | c.354 others(50): Show |
PSMA8 | ENSG00000154611.15 | transcript | ENST00000415576.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231165023 | TTTATATA others(28): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0284 | 2 | 364 | 0.0055 | -35 | c.248 others(52): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |