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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PECR_chr2_216033388_216086809 | 216055441 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG01515.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0155a0001c0001t0001g0212a0001c0001t0001g0213others(7): Show | 10 | 398 | 0.0251 | -9 | c.506 others(26): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 4/7 | chr2 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216061311 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG01123.hp2 others(32): Show |
a0002a0006a0010 | a0002c0002a0006c0005a0010c0012 | a0002c0002t0002a0006c0005t0009a0010c0012t0003 | a0002c0002t0002g0010a0002c0002t0002g0018a0002c0002t0002g0073others(31): Show | 35 | 398 | 0.0879 | -9 | c.425 others(26): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 3/7 | chr2 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216074441 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01261.hp2 others(33): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0084a0001c0001t0001g0349others(32): Show | 36 | 398 | 0.0905 | -9 | c.124 others(26): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
PEDS1_chr20_50113254_50158723 | 50127340 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0015a0002c0003t0015a0002c0003t0023others(2): Show | a0001c0001t0015g0241a0002c0003t0015g0042a0002c0003t0015g0046others(5): Show | 8 | 366 | 0.0219 | -9 | c.691 others(24): Show |
PEDS1 | ENSG00000240849.11 | transcript | ENST00000371652.9 | protein_coding | 5/5 | chr20 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4668939 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0281others(2): Show | 8 | 316 | 0.0253 | -9 | c.*24 others(20): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 834 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17595911 | TCAGTGTC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02970.hp2 HG03471.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0340a0005c0006t0001g0009a0005c0006t0001g0010others(2): Show | 5 | 348 | 0.0144 | -9 | c.-42 others(20): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4204 | chr17 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33385053 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01175.hp1 others(9): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0167a0001c0001t0003g0224a0002c0002t0002g0093others(9): Show | 12 | 314 | 0.0382 | -9 | c.*22 others(20): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 1896 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33486776 | CAGGGTCC others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01109.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(5): Show | a0001c0001t0001g0055a0001c0001t0001g0135a0001c0001t0003g0001others(24): Show | 30 | 314 | 0.0955 | -9 | c.503 others(26): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 6/14 | chr19 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238285247 | TGGTAGCT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01069.hp2 others(32): Show |
a0001a0006a0008 | a0001c0005a0001c0028a0006c0011others(1): Show | a0001c0005t0003a0001c0005t0012a0001c0005t0013others(5): Show | a0001c0005t0003g0278a0001c0005t0003g0280a0001c0005t0003g0281others(30): Show | 35 | 370 | 0.0946 | -9 | c.-20 others(26): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PEX11G_chr19_7471875_7494035 | 7490235 | TTATATAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 HG02922.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003 | a0001c0005t0001g0042a0001c0005t0003g0019 | 4 | 416 | 0.0096 | -9 | c.-12 others(20): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 1201 | chr19 | TogoVar | ||||||
PEX13_chr2_61012720_61056990 | 61052591 | GCTGCTAC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0192a0001c0001t0003g0193others(7): Show | 20 | 354 | 0.0565 | -9 | c.*38 others(20): Show |
PEX13 | ENSG00000162928.9 | transcript | ENST00000295030.6 | protein_coding | 602 | chr2 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0038others(7): Show | 10 | 258 | 0.0388 | -9 | c.170 others(28): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX1_chr7_92482025_92533520 | 92516053 | GAAAAAAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG02683.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0180 | 3 | 310 | 0.0097 | -9 | c.123 others(28): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18103092 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00642.hp1 others(49): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(23): Show | a0001c0001t0004g0005a0001c0001t0004g0006a0001c0001t0004g0021others(35): Show | 52 | 398 | 0.1307 | -9 | c.*15 others(22): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 5/5 | 15029 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
PEX3_chr6_143445805_143495616 | 143455359 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0016a0001c0003t0014 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0076others(2): Show | 7 | 412 | 0.0170 | -9 | c.74- others(24): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PEX5L_chr3_179789958_180041937 | 179874729 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0028a0001c0001t0041others(4): Show | a0001c0001t0004g0146a0001c0001t0028g0149a0001c0001t0041g0195others(5): Show | 8 | 220 | 0.0364 | -9 | c.630 others(24): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
PEX6_chr6_42958865_42984181 | 42961550 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02559.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0041a0004c0006t0004g0153a0004c0006t0004g0154others(2): Show | 6 | 378 | 0.0159 | -9 | c.*27 others(20): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 2314 | chr6 | TogoVar | ||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 7 | 366 | 0.0191 | -9 | c.-22 others(18): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | ||||||
PFDN1_chr5_140240035_140308101 | 140264020 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00738.hp2 others(54): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0026a0001c0001t0001g0059others(53): Show | 57 | 330 | 0.1727 | -9 | c.285 others(28): Show |
PFDN1 | ENSG00000113068.10 | transcript | ENST00000261813.9 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6200031 | CAAACCAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0022a0001c0001t0001g0238a0001c0001t0001g0239others(54): Show | 58 | 432 | 0.1343 | -9 | c.-32 others(20): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 2900 | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3081977 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00639.hp1 others(94): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0002g0109a0001c0001t0002g0201a0001c0001t0002g0204others(94): Show | 97 | 402 | 0.2413 | -9 | c.113 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3110365 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(56): Show |
a0001a0006 | a0001c0005a0001c0007a0001c0010others(9): Show | a0001c0005t0002a0001c0005t0003a0001c0005t0004others(21): Show | a0001c0005t0002g0004a0001c0005t0002g0178a0001c0005t0002g0282others(56): Show | 59 | 402 | 0.1468 | -9 | c.108 others(26): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3133867 | CTTATTCA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG03225.hp2 others(1): Show |
a0001a0010 | a0001c0023a0001c0040a0010c0048 | a0001c0023t0015a0001c0023t0019a0001c0040t0015others(1): Show | a0001c0023t0015g0386a0001c0023t0019g0254a0001c0040t0015g0011others(1): Show | 4 | 402 | 0.0100 | -9 | c.202 others(26): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3134419 | TTTCTATT others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG00741.hp2 others(37): Show |
a0001a0004a0006 | a0001c0007a0001c0008a0001c0010others(9): Show | a0001c0007t0005a0001c0007t0017a0001c0008t0005others(10): Show | a0001c0007t0005g0010a0001c0007t0005g0031a0001c0007t0005g0093others(37): Show | 40 | 402 | 0.0995 | -9 | c.202 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 19/21 | chr10 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61220375 | AAAGTGGA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02148.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0028 | 3 | 304 | 0.0099 | -9 | c.-20 others(20): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 1971 | chr11 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39684124 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(157): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0002a0006c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(67): Show | 160 | 376 | 0.4255 | -9 | c.432 others(24): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
PGBD1_chr6_28276572_28307549 | 28297816 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01069.hp2 others(3): Show |
a0004a0006 | a0004c0004a0006c0007 | a0004c0004t0002a0006c0007t0001 | a0004c0004t0002g0089a0006c0007t0001g0017a0006c0007t0001g0057 | 6 | 408 | 0.0147 | -9 | c.773 others(22): Show |
PGBD1 | ENSG00000137338.6 | transcript | ENST00000682144.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230348788 | AGGGACTG others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG00741.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0111a0001c0001t0004g0092a0001c0001t0004g0139others(33): Show | 36 | 288 | 0.1250 | -9 | c.894 others(26): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115226547 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG01496.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0026a0001c0001t0027others(17): Show | a0001c0001t0025g0193a0001c0001t0025g0194a0001c0001t0025g0195others(32): Show | 35 | 372 | 0.0941 | -9 | c.658 others(26): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 6/8 | chr5 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(42): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0242a0001c0001t0001g0251a0002c0002t0001g0002others(34): Show | 45 | 382 | 0.1178 | -9 | c.113 others(28): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15477698 | AAAATAAA others(2): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 HG03195.hp2 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0192a0008c0009t0001g0193a0008c0009t0001g0194others(2): Show | 5 | 382 | 0.0131 | -9 | c.62- others(24): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153348892 | CCAGGTAG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(324): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0011others(106): Show | 327 | 392 | 0.8342 | -9 | c.-42 others(18): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 52 | chr1 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153350647 | AAAAAGAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0002a0001c0001t0002g0027a0001c0001t0002g0029others(8): Show | 23 | 392 | 0.0587 | -9 | c.-21 others(20): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1807 | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74346270 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01243.hp2 others(12): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0010a0001c0004t0017a0001c0004t0029others(2): Show | a0001c0004t0010g0008a0001c0004t0010g0113a0001c0004t0010g0114others(11): Show | 15 | 380 | 0.0395 | -9 | c.103 others(26): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 8/13 | chr11 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98982699 | GCTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058a0001c0001t0001g0191a0001c0001t0003g0230 | 3 | 398 | 0.0075 | -9 | c.-14 others(30): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02015.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0018others(5): Show | a0001c0001t0010g0223a0001c0002t0001g0123a0001c0002t0001g0127others(10): Show | 13 | 254 | 0.0512 | -9 | c.248 others(28): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78386972 | ATGATGAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0333a0001c0001t0001g0334a0001c0001t0001g0335others(29): Show | 32 | 398 | 0.0804 | -9 | c.144 others(26): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78388986 | TAAGTTGA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0333a0001c0001t0001g0334a0001c0001t0001g0335others(58): Show | 61 | 398 | 0.1533 | -9 | c.144 others(26): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78410462 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01106.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0333a0001c0001t0001g0334a0001c0001t0001g0335others(20): Show | 23 | 398 | 0.0578 | -9 | c.140 others(28): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12754128 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0002g0006others(4): Show | 7 | 108 | 0.0648 | -9 | c.250 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12777625 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp2 HG03516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0004a0001c0001t0001g0049a0001c0001t0001g0050others(3): Show | 6 | 108 | 0.0556 | -9 | c.250 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12792464 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01361.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(13): Show | 16 | 108 | 0.1482 | -9 | c.250 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12897698 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01167.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014others(45): Show | 48 | 108 | 0.4444 | -9 | c.250 others(30): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13134795 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01255.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0036a0001c0001t0001g0046others(28): Show | 31 | 108 | 0.2870 | -9 | c.416 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13158184 | TTAGCAGA others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0002g0033others(3): Show | 6 | 108 | 0.0556 | -9 | c.416 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13177172 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01192.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0090a0001c0001t0001g0097a0001c0001t0002g0074others(9): Show | 12 | 108 | 0.1111 | -9 | c.497 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143736554 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(46): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0103a0001c0001t0001g0180a0001c0001t0001g0225others(46): Show | 49 | 310 | 0.1581 | -9 | c.215 others(28): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59785892 | CAACGGCC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0017others(127): Show | 130 | 250 | 0.5200 | -9 | c.117 others(30): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 7/12 | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59843944 | CCAGAATA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 NA18939.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0239a0001c0001t0002g0071a0001c0001t0002g0157 | 3 | 250 | 0.0120 | -9 | c.158 others(28): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28503465 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01123.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0044a0001c0003t0006a0001c0003t0010others(5): Show | a0001c0001t0044g0115a0001c0003t0006g0127a0001c0003t0006g0130others(20): Show | 23 | 228 | 0.1009 | -9 | c.*69 others(20): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 3102 | chr1 | TogoVar |