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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRRC2B_chr9_131389086_131505193 | 131420478 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02895.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 others(2): Show |
5 | 216 | 0.0232 | -15 | c.-51 others(32): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131435613 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(161): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0043a0001c0048others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(47): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(161): Show |
164 | 216 | 0.7593 | -15 | c.294 others(30): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171586543 | GTATTTTA others(8): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(33): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0005a0001c0033others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0004others(5): Show | a0001c0001t0001g0183 a0001c0005t0001g0083 a0001c0005t0001g0263 others(33): Show |
36 | 336 | 0.1071 | -15 | c.775 others(32): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703856 | GGTTTTTT others(8): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0047 | 1 | 336 | 0.0030 | -15 | c.*28 others(26): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2824 | chrX | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703857 | GTTTTTTT others(8): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0108 | a0002c0002t0108g0003 | 1 | 336 | 0.0030 | -15 | c.*28 others(26): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2866 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703899 | TTTTTTTT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02622.hp2 |
a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0003 | 2 | 336 | 0.0060 | -15 | c.*28 others(26): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2868 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703905 | TTTTTTTT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 | a0006 | a0006c0011 | a0006c0011t0074 | a0006c0011t0074g0005 | 1 | 336 | 0.0030 | -15 | c.*28 others(26): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2874 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703909 | TTTTTGTG others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0024 | 1 | 336 | 0.0030 | -15 | c.*28 others(26): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2878 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG4_chr11_32824927_32863120 | 32837507 | AGATGATG others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0040 a0001c0001t0008g0186 a0001c0001t0008g0190 others(1): Show |
5 | 402 | 0.0124 | -15 | c.267 others(30): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32837535 | GATGATGA others(8): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0277 a0001c0001t0009g0278 |
2 | 402 | 0.0050 | -15 | c.267 others(30): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32844467 | CTATTATT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp1 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 others(47): Show |
64 | 402 | 0.1592 | -15 | c.449 others(32): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRT1B_chr9_131540523_131564815 | 131545667 | ACAGGTAC others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00735.hp1 others(81): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0022a0001c0025others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0002g0034 a0001c0001t0003g0063 a0001c0001t0005g0062 others(50): Show |
84 | 458 | 0.1834 | -15 | c.25+ others(26): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRT2_chr16_29807193_29820881 | 29810099 | GGCGGCGG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | -15 | c.-22 others(26): Show |
PRRT2 | ENSG00000167371.21 | transcript | ENST00000358758.12 | protein_coding | 2093 | chr16 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346631 | TCTCTCTC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0015 | 1 | 448 | 0.0022 | -15 | c.*42 others(26): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3693 | chr7 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170660718 | AATTCATA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp1 HG03139.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009 | a0001c0001t0003g0181 a0001c0001t0005g0179 a0001c0001t0009g0180 |
3 | 356 | 0.0084 | -15 | c.-35 others(26): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 3412 | chr1 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170691441 | ATTTCCTT others(8): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0131 a0001c0001t0001g0144 others(7): Show |
11 | 356 | 0.0309 | -15 | c.241 others(34): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRSS16_chr6_27242701_27261620 | 27255285 | AAAGGAGA others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(30): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0021 others(4): Show |
33 | 370 | 0.0892 | -15 | c.152 others(24): Show |
p.Glu others(13): Show |
PRSS16 | ENSG00000112812.16 | transcript | ENST00000230582.8 | protein_coding | 12/12 | 1557/2887 | 1520/1545 | 507/514 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
PRSS27_chr16_2707422_2725224 | 2722877 | ATGTTTTG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp2 NA18522.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0017 | 3 | 382 | 0.0079 | -15 | c.-27 others(26): Show |
PRSS27 | ENSG00000172382.10 | transcript | ENST00000302641.8 | protein_coding | 2654 | chr16 | TogoVar | |||||||
PRSS38_chr1_227810675_227851470 | 227847382 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 450 | 0.0022 | -15 | c.*11 others(26): Show |
PRSS38 | ENSG00000185888.6 | transcript | ENST00000366757.4 | protein_coding | 913 | chr1 | TogoVar | |||||||
PRSS41_chr16_2793470_2810304 | 2795888 | GAGTCTGG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01346.hp1 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0021 a0002c0002t0001g0030 others(3): Show |
24 | 426 | 0.0563 | -15 | c.-25 others(26): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 2581 | chr16 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24859153 | CCTTGGTG others(8): Show |
C | intron_variant | MODIFIER | HG03239.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0064 |
2 | 338 | 0.0059 | -15 | c.406 others(30): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 4/8 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24929053 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 338 | 0.0030 | -15 | c.339 others(32): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24934233 | AAGAAGAA others(8): Show |
A | intron_variant | MODIFIER | HG02071.hp2 NA19030.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0132 a0001c0001t0001g0312 |
3 | 338 | 0.0089 | -15 | c.339 others(32): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55670901 | AAACACAC others(8): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0062 | a0002c0002t0062g0025 | 1 | 284 | 0.0035 | -15 | c.204 others(34): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | |||||||
PRTN3_chr19_835999_853175 | 844252 | CCGCGCCT others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0239 |
2 | 415 | 0.0048 | -15 | c.369 others(30): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 844484 | CCGCGCCT others(8): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 415 | 0.0024 | -15 | c.369 others(30): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRUNE1_chr1_151003449_151040713 | 151004731 | AAAAATAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(229): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(201): Show |
232 | 408 | 0.5686 | -15 | c.-39 others(26): Show |
PRUNE1 | ENSG00000143363.17 | transcript | ENST00000271620.8 | protein_coding | 3717 | chr1 | TogoVar | |||||||
PRUNE1_chr1_151003449_151040713 | 151036180 | ATTTTTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02965.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0001c0001t0005a0007c0015t0009 | a0001c0001t0001g0109 a0001c0001t0005g0190 a0001c0001t0005g0203 others(1): Show |
4 | 408 | 0.0098 | -15 | c.*19 others(26): Show |
PRUNE1 | ENSG00000143363.17 | transcript | ENST00000271620.8 | protein_coding | 468 | chr1 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76678349 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0168 a0002c0002t0009g0169 |
2 | 240 | 0.0083 | -15 | c.827 others(36): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 9/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76703459 | GGTGACAG others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(189): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0004a0001c0011others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(91): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0035 others(189): Show |
192 | 240 | 0.8000 | -15 | c.813 others(24): Show |
p.Leu others(15): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 9/19 | 8304/12612 | 8139/9267 | 2713/3088 | chr9 | TogoVar | |||
PRX_chr19_40388768_40418378 | 40396437 | CCTCAGGG others(8): Show |
C | conservative_inframe_deletion | MODERATE | HG03098.hp1 | a0025 | a0025c0034 | a0025c0034t0001 | a0025c0034t0001g0249 | 1 | 306 | 0.0033 | -15 | c.190 others(24): Show |
p.Met others(13): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 7/7 | 2197/4867 | 1900/4386 | 634/1461 | chr19 | TogoVar | |||
PRX_chr19_40388768_40418378 | 40409451 | CTATTATT others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0134 | 1 | 306 | 0.0033 | -15 | c.-24 others(34): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78320675 | CCATCCAT others(8): Show |
C | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 | 1 | 416 | 0.0024 | -15 | c.869 others(32): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18582816 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 228 | 0.0044 | -15 | c.248 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865263 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0114 | 1 | 228 | 0.0044 | -15 | c.163 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865265 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0021 | 1 | 228 | 0.0044 | -15 | c.163 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865269 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01884.hp2 HG02818.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0021a0001c0001t0055a0003c0004t0001 | a0001c0001t0021g0130 a0001c0001t0055g0171 a0003c0004t0001g0044 |
3 | 228 | 0.0132 | -15 | c.163 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865271 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0205 | 1 | 228 | 0.0044 | -15 | c.163 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18949241 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0004 | a0003c0004t0027 | a0003c0004t0027g0156 | 1 | 228 | 0.0044 | -15 | c.22- others(32): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73151892 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0293 | 1 | 378 | 0.0027 | -15 | c.87+ others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73193551 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 378 | 0.0027 | -15 | c.769 others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202441 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG03704.hp2 NA18947.hp2 NA18965.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0006a0002c0006t0006 | a0001c0001t0006g0257 a0001c0001t0006g0272 a0001c0001t0006g0281 others(1): Show |
4 | 378 | 0.0106 | -15 | c.869 others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202443 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01975.hp1 NA18747.hp2 NA18974.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0273 a0001c0001t0006g0275 a0001c0001t0006g0276 others(1): Show |
4 | 378 | 0.0106 | -15 | c.869 others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202447 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0029 | a0001c0001t0007g0154 a0001c0001t0029g0133 |
2 | 378 | 0.0053 | -15 | c.869 others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202454 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0173 | 1 | 378 | 0.0027 | -15 | c.869 others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73212088 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01943.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0062 a0001c0001t0005g0186 a0001c0001t0007g0156 others(7): Show |
10 | 378 | 0.0265 | -15 | c.112 others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSG2_chr19_43059209_43087701 | 43076915 | CTTCTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02717.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 others(2): Show |
5 | 424 | 0.0118 | -15 | c.431 others(32): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG8_chr19_42749233_42770678 | 42761820 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02723.hp1 others(2): Show |
a0005a0012 | a0005c0009a0012c0030 | a0005c0009t0001a0012c0030t0001 | a0005c0009t0001g0041 a0005c0009t0001g0148 a0005c0009t0001g0150 others(1): Show |
5 | 438 | 0.0114 | -15 | c.430 others(32): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15463493 | AGGGGTGG others(8): Show |
A | downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0220 | 1 | 300 | 0.0033 | -15 | c.*20 others(26): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 572 | chr9 | TogoVar | |||||||
PSKH2_chr8_86042109_86074668 | 86049730 | GAAAGAAA others(8): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01257.hp2 others(27): Show |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0001a0013c0018t0001 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0018 others(12): Show |
30 | 420 | 0.0714 | -15 | c.853 others(30): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar |