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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHGB1_chr5_141345099_141517975 | 141379889 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01099.hp2 others(10): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0101a0001c0001t0002g0004a0001c0001t0002g0005others(10): Show | 13 | 278 | 0.0468 | -9 | c.240 others(30): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB2_chr5_141354994_141517975 | 141379889 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01099.hp2 others(10): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0012others(1): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0006others(2): Show | a0001c0001t0001g0174a0002c0002t0003g0206a0002c0002t0003g0207others(10): Show | 13 | 288 | 0.0451 | -9 | c.242 others(30): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141379889 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01099.hp1 others(10): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0069a0001c0001t0002g0192a0001c0001t0003g0071others(10): Show | 13 | 296 | 0.0439 | -9 | c.241 others(28): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCED1A_chr20_2830314_2845655 | 2831509 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01070.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008 | 28 | 436 | 0.0642 | -9 | c.*39 others(20): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 3804 | chr20 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47103609 | ATGAACCG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(115): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0067a0001c0001t0002g0004a0001c0001t0002g0035others(115): Show | 118 | 322 | 0.3665 | -9 | c.-60 others(26): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47202594 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG02083.hp2 HG02132.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0020others(22): Show | 25 | 322 | 0.0776 | -9 | c.-52 others(30): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 711445 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(62): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0001g0052others(62): Show | 65 | 366 | 0.1776 | -9 | c.-19 others(28): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 755904 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(31): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0005a0001c0003t0010a0001c0003t0015others(5): Show | a0001c0003t0005g0001a0001c0003t0005g0121a0001c0003t0005g0122others(30): Show | 34 | 366 | 0.0929 | -9 | c.463 others(26): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 769762 | TATCAGAC others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG01891.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0015a0001c0001t0004g0117a0001c0001t0004g0119others(25): Show | 28 | 366 | 0.0765 | -9 | c.*36 others(20): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 11/11 | 3686 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
PCGF6_chr10_103297796_103356140 | 103339809 | AAACACAC others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp1 HG01256.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261a0001c0001t0001g0264a0001c0001t0001g0273others(6): Show | 9 | 372 | 0.0242 | -9 | c.782 others(26): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
PCGF6_chr10_103297796_103356140 | 103339811 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02622.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0243 | 3 | 372 | 0.0081 | -9 | c.782 others(26): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83043912 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02486.hp1 others(5): Show |
a0001a0019a0034others(4): Show | a0001c0001a0019c0079a0019c0098others(5): Show | a0001c0001t0001a0019c0079t0002a0019c0098t0002others(5): Show | a0001c0001t0001g0148a0019c0079t0002g0114a0019c0098t0002g0082others(5): Show | 8 | 188 | 0.0426 | -9 | c.330 others(30): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83151392 | AAAGCACT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02559.hp2 others(1): Show |
a0013a0061 | a0013c0082a0013c0083a0013c0084others(1): Show | a0013c0082t0022a0013c0083t0021a0013c0084t0015others(1): Show | a0013c0082t0022g0002a0013c0083t0021g0004a0013c0084t0015g0001others(1): Show | 4 | 188 | 0.0213 | -9 | c.189 others(28): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 2/24 | chr7 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 18026163 | CTGAAACA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01070.hp1 others(54): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0024a0003c0003others(10): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0018others(25): Show | a0001c0001t0002g0045a0001c0001t0002g0072a0001c0001t0017g0105others(54): Show | 57 | 368 | 0.1549 | -9 | c.604 others(26): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 38/38 | chr8 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762549 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG03831.hp1 NA18962.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0273a0001c0001t0001g0297a0001c0001t0004g0220 | 3 | 334 | 0.0090 | -9 | c.56- others(24): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149763200 | ATATATCT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0155a0001c0001t0001g0156 | 3 | 334 | 0.0090 | -9 | c.56- others(24): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149763225 | AATATCTA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(217): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(216): Show | 220 | 334 | 0.6587 | -9 | c.56- others(24): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149763272 | AAATATCT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0155a0001c0001t0001g0156 | 3 | 334 | 0.0090 | -9 | c.56- others(24): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64255958 | CCACCCCC others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02148.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0013 | a0001c0002t0002g0179a0001c0002t0002g0181a0001c0002t0002g0182others(1): Show | 4 | 332 | 0.0121 | -9 | c.-25 others(23): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCNP_chr3_101569180_101599465 | 101586170 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0025others(26): Show | 57 | 424 | 0.1344 | -9 | c.354 others(24): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCNP_chr3_101569180_101599465 | 101596695 | AATTATTA others(2): Show |
A | downstream_gene_variant | MODIFIER | NA18747.hp2 NA18940.hp2 NA18943.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0023others(2): Show | 10 | 424 | 0.0236 | -9 | c.*39 others(20): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 2231 | chr3 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910198 | CTCCTCCT others(2): Show |
C | intron_variant | MODIFIER | HG03654.hp1 NA18964.hp1 NA19000.hp2 |
a0001a0014 | a0001c0006a0014c0015 | a0001c0006t0029a0001c0006t0062a0014c0015t0063 | a0001c0006t0029g0132a0001c0006t0062g0130a0014c0015t0063g0131 | 3 | 352 | 0.0085 | -9 | c.153 others(26): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX2_chr1_232978435_233300725 | 233074594 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01169.hp2 HG02886.hp1 others(3): Show |
a0001a0004a0007others(2): Show | a0001c0004a0001c0007a0004c0032others(3): Show | a0001c0004t0001a0001c0007t0001a0004c0032t0002others(3): Show | a0001c0004t0001g0020a0001c0007t0001g0002a0004c0032t0002g0004others(3): Show | 6 | 146 | 0.0411 | -9 | c.407 others(30): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233119589 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02015.hp2 HG04115.hp2 others(3): Show |
a0001a0017 | a0001c0009a0017c0025 | a0001c0009t0001a0017c0025t0001 | a0001c0009t0001g0074a0001c0009t0001g0078a0001c0009t0001g0080others(3): Show | 6 | 146 | 0.0411 | -9 | c.383 others(30): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 21/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233253769 | TATTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01261.hp2 others(8): Show |
a0001a0002a0012others(2): Show | a0001c0007a0001c0030a0002c0011others(3): Show | a0001c0007t0001a0001c0007t0003a0001c0030t0002others(5): Show | a0001c0007t0001g0002a0001c0007t0001g0019a0001c0007t0001g0054others(8): Show | 11 | 146 | 0.0753 | -9 | c.183 others(26): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 5/33 | chr1 | TogoVar | ||||||
PCOLCE_chr7_100597363_100613175 | 100609222 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00735.hp1 others(33): Show |
a0001a0009 | a0001c0001a0001c0009a0001c0017others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(9): Show | 36 | 332 | 0.1084 | -9 | c.*11 others(20): Show |
PCOLCE | ENSG00000106333.13 | transcript | ENST00000223061.6 | protein_coding | 1048 | chr7 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17303513 | TATAATAT others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0001g0141a0001c0001t0001g0265a0001c0001t0008g0151others(4): Show | 7 | 274 | 0.0256 | -9 | c.282 others(28): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17348041 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01123.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0172a0001c0001t0002g0041a0001c0001t0002g0229others(6): Show | 9 | 274 | 0.0329 | -9 | c.283 others(28): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17391983 | GAAGGAAG others(2): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02976.hp2 NA19079.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0014a0001c0005t0012 | a0001c0001t0002g0163a0001c0001t0014g0006a0001c0005t0012g0048 | 3 | 274 | 0.0110 | -9 | c.544 others(28): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75994396 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp1 others(3): Show |
a0004a0009a0011others(2): Show | a0004c0006a0009c0038a0011c0007others(2): Show | a0004c0006t0012a0009c0038t0021a0011c0007t0008others(2): Show | a0004c0006t0012g0143a0004c0006t0012g0144a0009c0038t0021g0132others(3): Show | 6 | 166 | 0.0361 | -9 | c.411 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76046160 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01123.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0080a0001c0095a0002c0009others(5): Show | a0001c0080t0007a0001c0095t0002a0002c0009t0025others(5): Show | a0001c0080t0007g0024a0001c0095t0002g0103a0002c0009t0025g0084others(5): Show | 8 | 166 | 0.0482 | -9 | c.632 others(28): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76191947 | CACGTACC others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00639.hp2 others(92): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0004a0001c0013others(65): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(87): Show | a0001c0001t0002g0077a0001c0001t0002g0097a0001c0001t0002g0101others(92): Show | 95 | 166 | 0.5723 | -9 | c.262 others(28): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 20/37 | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76239695 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01069.hp2 others(7): Show |
a0010a0011a0014others(1): Show | a0010c0018a0010c0021a0010c0059others(4): Show | a0010c0018t0002a0010c0018t0051a0010c0021t0002others(7): Show | a0010c0018t0002g0067a0010c0018t0051g0088a0010c0021t0002g0151others(7): Show | 10 | 166 | 0.0602 | -9 | c.307 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76246341 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG03453.hp1 others(2): Show |
a0015a0023a0046others(2): Show | a0015c0023a0023c0044a0046c0056others(2): Show | a0015c0023t0018a0023c0044t0015a0046c0056t0019others(2): Show | a0015c0023t0018g0111a0023c0044t0015g0134a0046c0056t0019g0055others(2): Show | 5 | 166 | 0.0301 | -9 | c.314 others(28): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76311296 | AGCTGTGA others(2): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
a0036a0037a0040others(1): Show | a0036c0050a0037c0086a0040c0082others(1): Show | a0036c0050t0015a0037c0086t0001a0040c0082t0001others(1): Show | a0036c0050t0015g0116a0037c0086t0001g0159a0040c0082t0001g0075others(1): Show | 4 | 166 | 0.0241 | -9 | c.388 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101489563 | GGCGCCCC others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG01358.hp2 HG01884.hp2 others(29): Show |
a0002a0006a0019 | a0002c0008a0002c0016a0002c0017others(10): Show | a0002c0008t0001a0002c0008t0002a0002c0016t0001others(14): Show | a0002c0008t0001g0015a0002c0008t0001g0018a0002c0008t0001g0020others(29): Show | 32 | 336 | 0.0952 | -9 | c.99_ others(15): Show |
p.Gly others(11): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 144/4272 | 99/2910 | 33/969 | chr15 | TogoVar | ||
PCYT1B_chrX_24553087_24652347 | 24585508 | AGATGCTG others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0071 | a0001c0002t0071g0184 | 1 | 260 | 0.0039 | -9 | c.565 others(26): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 5/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24593437 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 2 | 260 | 0.0077 | -9 | c.335 others(26): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24651469 | AAAAATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0157 | 1 | 260 | 0.0039 | -9 | c.-43 others(20): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4123 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24651473 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0254 | 1 | 260 | 0.0039 | -9 | c.-43 others(20): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4127 | chrX | TogoVar | ||||||
PC_chr11_66843420_66963383 | 66873418 | AATATATT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02257.hp2 others(26): Show |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0001a0004c0014t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(26): Show | 29 | 274 | 0.1058 | -9 | c.1-1 others(22): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | ||||||
PDCD11_chr10_103391626_103451294 | 103422055 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG02109.hp2 HG02622.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0013others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0013t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0145a0001c0001t0001g0183others(13): Show | 27 | 362 | 0.0746 | -9 | c.249 others(26): Show |
PDCD11 | ENSG00000148843.15 | transcript | ENST00000369797.8 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDCD1LG2_chr9_5505531_5576282 | 5508342 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00639.hp2 others(62): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0025others(57): Show | 65 | 406 | 0.1601 | -9 | c.-24 others(20): Show |
PDCD1LG2 | ENSG00000197646.8 | transcript | ENST00000397747.5 | protein_coding | 2188 | chr9 | TogoVar | ||||||
PDCD5_chr19_32576190_32592453 | 32588312 | CTTTTGAG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02165.hp2 NA18946.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 422 | 0.0071 | -9 | c.*10 others(20): Show |
PDCD5 | ENSG00000105185.12 | transcript | ENST00000590247.7 | protein_coding | 860 | chr19 | TogoVar | ||||||
PDCL2_chr4_55551519_55597245 | 55593359 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01256.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0110a0001c0001t0001g0116others(3): Show | 6 | 376 | 0.0160 | -9 | c.-12 others(20): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 1115 | chr4 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165434016 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02809.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0001a0001c0004t0018a0001c0011t0025others(2): Show | a0001c0001t0001g0055a0001c0004t0018g0144a0001c0011t0025g0113others(3): Show | 6 | 222 | 0.0270 | -9 | c.133 others(26): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 6/21 | chr6 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165592333 | AAAACCAT others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0033a0001c0002t0030others(2): Show | a0001c0001t0001g0147a0001c0001t0033g0218a0001c0002t0030g0086others(2): Show | 5 | 222 | 0.0225 | -9 | c.866 others(28): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177627017 | CTTTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(47): Show |
a0001a0002a0006others(4): Show | a0001c0003a0002c0002a0002c0004others(10): Show | a0001c0003t0030a0001c0003t0032a0002c0002t0001others(21): Show | a0001c0003t0030g0123a0001c0003t0032g0120a0002c0002t0001g0028others(47): Show | 50 | 170 | 0.2941 | -9 | c.*23 others(20): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 20/20 | 2381 | chr2 | TogoVar | |||||
PDE11A_chr2_177618244_178077777 | 177631505 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01167.hp2 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0010a0002c0002a0002c0004others(4): Show | a0001c0010t0008a0002c0002t0001a0002c0002t0006others(8): Show | a0001c0010t0008g0061a0002c0002t0001g0047a0002c0002t0001g0048others(14): Show | 17 | 170 | 0.1000 | -9 | c.264 others(28): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177631507 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00639.hp2 others(31): Show |
a0002a0006a0009others(1): Show | a0002c0002a0002c0004a0002c0020others(5): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0012others(15): Show | a0002c0002t0001g0031a0002c0002t0001g0042a0002c0002t0001g0045others(31): Show | 34 | 170 | 0.2000 | -9 | c.264 others(28): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar |