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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRTFDC1_chr10_24843614_24957606 | 24880813 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02148.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0053a0001c0001t0002g0041a0001c0001t0002g0044others(5): Show | 8 | 338 | 0.0237 | -12 | c.340 others(29): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
PRTFDC1_chr10_24843614_24957606 | 24952661 | TGGGGACG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 338 | 0.0030 | -12 | c.-98 others(19): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 56 | chr10 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55629367 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01975.hp2 HG02027.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0001g0134a0001c0001t0001g0151a0001c0001t0001g0158others(10): Show | 13 | 284 | 0.0458 | -12 | c.262 others(29): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55629371 | ATATATGT others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0218 | 1 | 284 | 0.0035 | -12 | c.262 others(29): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55629373 | ATATGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0033 | a0001c0001t0004g0281a0001c0001t0004g0282a0001c0001t0033g0098 | 3 | 284 | 0.0106 | -12 | c.262 others(29): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55638955 | ATCATTCA others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0228 | 1 | 284 | 0.0035 | -12 | c.232 others(29): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 13/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55642192 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0217 | 1 | 284 | 0.0035 | -12 | c.204 others(29): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55649791 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(174): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(72): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0115others(173): Show | 177 | 284 | 0.6232 | -12 | c.204 others(31): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55670897 | TCACAAAC others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0218 | 1 | 284 | 0.0035 | -12 | c.204 others(31): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55670902 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01517.hp1 HG02965.hp1 HG03195.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0004a0001c0001t0033a0001c0001t0034others(5): Show | a0001c0001t0004g0255a0001c0001t0004g0258a0001c0001t0033g0103others(8): Show | 11 | 284 | 0.0387 | -12 | c.204 others(31): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55682544 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01891.hp2 others(9): Show |
a0001a0013 | a0001c0001a0013c0016 | a0001c0001t0011a0001c0001t0030a0001c0001t0041others(7): Show | a0001c0001t0011g0075a0001c0001t0011g0091a0001c0001t0030g0092others(9): Show | 12 | 284 | 0.0423 | -12 | c.543 others(25): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 3/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55693360 | GCAGGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0039a0001c0007t0116a0001c0007t0117others(1): Show | a0001c0007t0039g0230a0001c0007t0039g0231a0001c0007t0116g0109others(2): Show | 5 | 284 | 0.0176 | -12 | c.398 others(29): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 2/19 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55735420 | CTAAAACC others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0004 | 1 | 284 | 0.0035 | -12 | c.397 others(29): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 2/19 | chr15 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 849688 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0169 | 1 | 415 | 0.0024 | -12 | c.*17 others(23): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 1514 | chr19 | TogoVar | ||||||
PRUNE1_chr1_151003449_151040713 | 151027771 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 408 | 0.0025 | -12 | c.774 others(27): Show |
PRUNE1 | ENSG00000143363.17 | transcript | ENST00000271620.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRUNE2_chr9_76606376_76911114 | 76632972 | AGCACTTT others(5): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 HG03453.hp1 others(1): Show |
a0001a0007a0009others(1): Show | a0001c0001a0007c0006a0009c0010others(1): Show | a0001c0001t0005a0007c0006t0018a0009c0010t0004others(1): Show | a0001c0001t0005g0030a0007c0006t0018g0187a0009c0010t0004g0013others(1): Show | 4 | 240 | 0.0167 | -12 | c.905 others(31): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 15/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76706391 | GTCCTGAC others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02109.hp2 HG02965.hp2 |
a0015 | a0015c0021 | a0015c0021t0002a0015c0021t0021 | a0015c0021t0002g0172a0015c0021t0021g0239 | 2 | 240 | 0.0083 | -12 | c.587 others(21): Show |
p.Glu others(15): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 8/19 | 6033/12612 | 5871/9267 | 1957/3088 | chr9 | TogoVar | ||
PRUNE2_chr9_76606376_76911114 | 76731280 | CTCTATCT others(5): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0038 | 1 | 240 | 0.0042 | -12 | c.757 others(31): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76764233 | CAAACAAA others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02970.hp1 HG03579.hp1 |
a0001a0007a0025 | a0001c0001a0007c0006a0025c0048 | a0001c0001t0004a0007c0006t0018a0025c0048t0001 | a0001c0001t0004g0157a0007c0006t0018g0187a0025c0048t0001g0057 | 3 | 240 | 0.0125 | -12 | c.757 others(31): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76768577 | ATATGTAT others(5): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0039 | a0039c0055 | a0039c0055t0004 | a0039c0055t0004g0170 | 1 | 240 | 0.0042 | -12 | c.757 others(31): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76768579 | ATGTATGT others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp1 others(45): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0044a0002c0002others(15): Show | a0001c0001t0004a0001c0044t0001a0002c0002t0001others(23): Show | a0001c0001t0004g0027a0001c0044t0001g0051a0002c0002t0001g0022others(45): Show | 48 | 240 | 0.2000 | -12 | c.757 others(31): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76768583 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 |
a0018a0020 | a0018c0022a0020c0058 | a0018c0022t0012a0020c0058t0032 | a0018c0022t0012g0004a0020c0058t0032g0171 | 2 | 240 | 0.0083 | -12 | c.757 others(31): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76776887 | AACACATA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0020 | a0020c0058 | a0020c0058t0032 | a0020c0058t0032g0171 | 1 | 240 | 0.0042 | -12 | c.756 others(31): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76776893 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(37): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0044a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0229a0001c0001t0003g0192a0001c0001t0003g0217others(37): Show | 40 | 240 | 0.1667 | -12 | c.756 others(31): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76858765 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02895.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009 | a0002c0002t0002g0018a0002c0002t0009g0168a0002c0002t0009g0169 | 3 | 240 | 0.0125 | -12 | c.37- others(27): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76897390 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp1 others(12): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0004a0002c0002t0009a0003c0003t0002others(11): Show | a0001c0001t0004g0157a0002c0002t0009g0168a0002c0002t0009g0169others(12): Show | 15 | 240 | 0.0625 | -12 | c.36+ others(27): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG03130.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0018 | a0001c0001t0001g0010a0002c0002t0018g0027 | 3 | 300 | 0.0100 | -12 | c.-18 others(23): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | ||||||
PRX_chr19_40388768_40418378 | 40399897 | TTCTTTCT others(5): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0039 | 1 | 306 | 0.0033 | -12 | c.185 others(29): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | ||||||
PSAP_chr10_71811298_71856251 | 71835219 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(64): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0090a0001c0001t0002g0002a0001c0001t0002g0003others(25): Show | 67 | 430 | 0.1558 | -12 | c.41- others(25): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
PSAT1_chr9_78292125_78335093 | 78328520 | TTATTATT others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0035others(5): Show | 11 | 416 | 0.0264 | -12 | c.100 others(29): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSD2_chr5_139790808_139849466 | 139792859 | TTTCCTTC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp2 HG03579.hp1 HG03669.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0126a0001c0001t0001g0197others(5): Show | 8 | 276 | 0.0290 | -12 | c.-31 others(23): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 2948 | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830521 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0007 | a0007c0013 | a0007c0013t0012 | a0007c0013t0012g0256 | 1 | 276 | 0.0036 | -12 | c.127 others(31): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18562891 | TAAAGAAA others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00738.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(12): Show | a0001c0001t0001g0046a0001c0001t0005g0059a0001c0001t0016g0078others(13): Show | 16 | 228 | 0.0702 | -12 | c.278 others(31): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 14/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18582816 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0047others(8): Show | a0001c0001t0001g0055a0001c0001t0016g0078a0001c0001t0047g0090others(11): Show | 14 | 228 | 0.0614 | -12 | c.248 others(31): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18607689 | AAAAAAAC others(5): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 228 | 0.0044 | -12 | c.241 others(31): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 11/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18636260 | ATTTTTAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(101): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0013others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(83): Show | a0001c0001t0001g0005a0001c0001t0001g0038a0001c0001t0001g0046others(101): Show | 104 | 228 | 0.4561 | -12 | c.221 others(31): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18684204 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01934.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0011others(1): Show | a0001c0001t0007a0001c0002t0006a0002c0011t0002others(3): Show | a0001c0001t0007g0114a0001c0002t0006g0133a0002c0011t0002g0127others(3): Show | 6 | 228 | 0.0263 | -12 | c.217 others(33): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18752600 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01978.hp2 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0082 | a0003c0004t0001g0044a0003c0004t0082g0215 | 2 | 228 | 0.0088 | -12 | c.217 others(33): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18823773 | AACACACT others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG02735.hp2 others(4): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0002c0005others(2): Show | a0001c0002t0022a0002c0003t0009a0002c0005t0001others(3): Show | a0001c0002t0022g0184a0002c0003t0009g0106a0002c0005t0001g0137others(4): Show | 7 | 228 | 0.0307 | -12 | c.163 others(33): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18838802 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0106 | 1 | 228 | 0.0044 | -12 | c.163 others(33): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18860700 | ATAACATC others(5): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0007 | a0002c0007t0031 | a0002c0007t0031g0001 | 1 | 228 | 0.0044 | -12 | c.163 others(31): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865224 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02071.hp1 HG02129.hp1 HG03710.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0025others(1): Show | a0001c0001t0001a0001c0001t0024a0001c0002t0032others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0046a0001c0001t0024g0027others(3): Show | 6 | 228 | 0.0263 | -12 | c.163 others(31): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865276 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0004 | a0003c0004t0045 | a0003c0004t0045g0071 | 1 | 228 | 0.0044 | -12 | c.163 others(31): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18879039 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03831.hp2 HG04204.hp2 others(1): Show |
a0001a0002 | a0001c0028a0002c0003a0002c0031 | a0001c0028t0006a0002c0003t0009a0002c0003t0040others(1): Show | a0001c0028t0006g0195a0002c0003t0009g0018a0002c0003t0040g0080others(1): Show | 4 | 228 | 0.0175 | -12 | c.131 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18916297 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0061a0001c0001t0001g0076others(23): Show | 26 | 228 | 0.1140 | -12 | c.130 others(31): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18944571 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(121): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0030others(121): Show | 124 | 228 | 0.5439 | -12 | c.22- others(27): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18991361 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03098.hp2 HG03130.hp2 others(1): Show |
a0001a0003a0011 | a0001c0001a0003c0004a0011c0035 | a0001c0001t0042a0001c0001t0043a0003c0004t0027others(1): Show | a0001c0001t0042g0158a0001c0001t0043g0159a0003c0004t0027g0156others(1): Show | 4 | 228 | 0.0175 | -12 | c.21+ others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
PSD4_chr2_113168971_113214391 | 113203569 | TTTTTTTT others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp1 others(19): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004others(1): Show | a0001c0002t0009a0001c0002t0014a0001c0002t0058others(4): Show | a0001c0002t0009g0023a0001c0002t0009g0024a0001c0002t0009g0043others(13): Show | 22 | 380 | 0.0579 | -12 | c.*21 others(23): Show |
PSD4 | ENSG00000125637.16 | transcript | ENST00000245796.11 | protein_coding | 17/17 | 2155 | chr2 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73134487 | CATTTATT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(86): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0365a0001c0001t0003g0002a0001c0001t0003g0108others(85): Show | 89 | 378 | 0.2355 | -12 | c.-22 others(23): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 2019 | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73138191 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02615.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0004g0291a0001c0001t0004g0292a0001c0001t0004g0294others(11): Show | 14 | 378 | 0.0370 | -12 | c.-13 others(31): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |