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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAX5_chr9_36828269_37039268 | 37018570 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(61): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0089a0001c0001t0001g0138a0001c0001t0001g0142others(61): Show | 64 | 274 | 0.2336 | 9 | c.212 others(26): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 2/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 37027605 | T | TGCCGCCG others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0008a0001c0002t0061a0002c0005t0020 | a0001c0002t0008g0195a0001c0002t0061g0024a0002c0005t0020g0025others(1): Show | 4 | 274 | 0.0146 | 9 | c.46+ others(24): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
PAX6_chr11_31784026_31816322 | 31815029 | T | TCTCTCTC others(2): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 HG02056.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0125others(2): Show | 5 | 376 | 0.0133 | 9 | c.-42 others(20): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3708 | chr11 | TogoVar | ||||||
PAX9_chr14_36656860_36684362 | 36672852 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(86): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(15): Show | a0001c0003t0001g0017a0001c0003t0001g0026a0001c0003t0001g0050others(59): Show | 89 | 446 | 0.1996 | 9 | c.772 others(26): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAX9_chr14_36656860_36684362 | 36679962 | T | TAAAACAC others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(259): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(37): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0066others(186): Show | 262 | 446 | 0.5874 | 9 | c.*35 others(20): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 601 | chr14 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52542619 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00673.hp2 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152a0001c0002t0001g0158a0001c0002t0001g0161others(27): Show | 30 | 300 | 0.1000 | 9 | c.*54 others(20): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 2747 | chr3 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52584450 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02886.hp2 others(11): Show |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0001a0001c0004t0001a0001c0005t0001 | a0001c0003t0001g0263a0001c0003t0001g0265a0001c0003t0001g0291others(11): Show | 14 | 300 | 0.0467 | 9 | c.343 others(28): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 22/31 | chr3 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52612258 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02809.hp2 others(11): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004 | a0001c0004t0001g0270a0001c0004t0001g0271a0001c0004t0001g0274others(11): Show | 14 | 300 | 0.0467 | 9 | c.197 others(28): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 17/31 | chr3 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164588473 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG03669.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0143a0001c0001t0002g0132others(2): Show | 5 | 184 | 0.0272 | 9 | c.265 others(28): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PBX1_chr1_164554184_164856831 | 164776942 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02738.hp1 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0032a0002c0002t0001 | a0001c0001t0001g0029a0001c0001t0032g0180a0002c0002t0001g0093 | 3 | 184 | 0.0163 | 9 | c.266 others(28): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125793364 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0080a0001c0001t0002g0081others(1): Show | 4 | 294 | 0.0136 | 9 | c.274 others(28): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125793366 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01943.hp2 HG03834.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0065 | 3 | 294 | 0.0102 | 9 | c.274 others(28): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125971711 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01109.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0025others(24): Show | 27 | 294 | 0.0918 | 9 | c.*57 others(20): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 4335 | chr9 | TogoVar | ||||||
PBX4_chr19_19556713_19623687 | 19605416 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01256.hp1 HG01258.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0192others(14): Show | 19 | 376 | 0.0505 | 9 | c.120 others(26): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
PBX4_chr19_19556713_19623687 | 19605446 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0056a0001c0001t0001g0066others(5): Show | 9 | 376 | 0.0239 | 9 | c.120 others(26): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100188325 | A | AAAACAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG02965.hp2 others(3): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0008 | a0001c0001t0001a0001c0002t0001a0008c0008t0001 | a0001c0001t0001g0083a0001c0001t0001g0088a0001c0002t0001g0082others(3): Show | 6 | 174 | 0.0345 | 9 | c.469 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100354074 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG02055.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0022a0001c0001t0001g0027a0001c0001t0001g0072others(4): Show | 7 | 174 | 0.0402 | 9 | c.164 others(30): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100469211 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02145.hp2 HG02735.hp2 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0003a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0039others(14): Show | 17 | 174 | 0.0977 | 9 | c.189 others(30): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100516760 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02886.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0142a0001c0001t0001g0159 | 3 | 174 | 0.0172 | 9 | c.204 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136289789 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00738.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0019others(38): Show | 42 | 300 | 0.1400 | 9 | c.655 others(26): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCCB_chr3_136245340_136335169 | 136307977 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02135.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(3): Show | 6 | 300 | 0.0200 | 9 | c.966 others(26): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCDH10_chr4_133144294_133199700 | 133199289 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01106.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0014others(33): Show | 45 | 382 | 0.1178 | 9 | c.*91 others(20): Show |
PCDH10 | ENSG00000138650.9 | transcript | ENST00000264360.7 | protein_coding | 4590 | chr4 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 91905098 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 154 | 0.0065 | 9 | c.303 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 91973613 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0006 | a0001c0001t0005g0050a0001c0002t0006g0007 | 2 | 154 | 0.0130 | 9 | c.303 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92111219 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 154 | 0.0065 | 9 | c.303 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92148157 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0013 | 1 | 154 | 0.0065 | 9 | c.303 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92331279 | T | TTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0009 | a0001c0009t0031 | a0001c0009t0031g0044 | 1 | 154 | 0.0065 | 9 | c.314 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92331372 | T | TTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01243.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0042a0001c0001t0001g0047a0001c0001t0001g0066others(29): Show | 32 | 154 | 0.2078 | 9 | c.314 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92348511 | C | CATTTTTA others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0045a0001c0001t0011g0147 | 2 | 154 | 0.0130 | 9 | c.314 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92355316 | A | ACTTGGGA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(109): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0029others(109): Show | 112 | 154 | 0.7273 | 9 | c.314 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92478636 | A | ATTCATGA others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01256.hp1 HG01258.hp1 others(36): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0039a0001c0001t0001g0055a0001c0001t0001g0060others(36): Show | 39 | 154 | 0.2533 | 9 | c.336 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92487048 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18995.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0071a0001c0001t0001g0125 | 3 | 154 | 0.0195 | 9 | c.336 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92499636 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 154 | 0.0065 | 9 | c.336 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373094 | C | CCTCCCTC others(2): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 115 | 0.0087 | 9 | c.285 others(32): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5393657 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18948.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0036a0001c0001t0001g0071others(1): Show | 4 | 115 | 0.0348 | 9 | c.285 others(32): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5603855 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0090a0001c0001t0006g0076 | 2 | 115 | 0.0174 | 9 | c.307 others(30): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5637921 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 115 | 0.0087 | 9 | c.307 others(30): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5682239 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0087 | 2 | 115 | 0.0174 | 9 | c.307 others(30): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH12_chr5_141938581_141963202 | 141945390 | C | CCTGCTGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(233): Show |
a0001a0008a0009others(5): Show | a0001c0001a0001c0002a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(59): Show | 236 | 412 | 0.5728 | 9 | c.353 others(18): Show |
p.Ser others(15): Show |
PCDH12 | ENSG00000113555.6 | transcript | ENST00000231484.4 | protein_coding | 4/4 | 3896/5706 | 3545/3555 | 1182/1184 | chr5 | TogoVar | ||
PCDH15_chr10_53797771_54806231 | 53828483 | C | CAGGCTGA others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG03130.hp2 |
a0010a0024 | a0010c0009a0024c0029 | a0010c0009t0011a0010c0009t0012a0024c0029t0011 | a0010c0009t0011g0078a0010c0009t0012g0042a0024c0029t0011g0099 | 3 | 102 | 0.0294 | 9 | c.421 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 31/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888702 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG02922.hp2 others(4): Show |
a0001a0003a0005others(3): Show | a0001c0042a0003c0003a0005c0040others(3): Show | a0001c0042t0016a0003c0003t0001a0003c0003t0003others(4): Show | a0001c0042t0016g0002a0003c0003t0001g0017a0003c0003t0003g0033others(4): Show | 7 | 102 | 0.0686 | 9 | c.350 others(30): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53897959 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02145.hp2 others(5): Show |
a0002a0005a0022others(4): Show | a0002c0002a0005c0005a0022c0028others(4): Show | a0002c0002t0004a0002c0002t0027a0005c0005t0009others(5): Show | a0002c0002t0004g0041a0002c0002t0027g0064a0005c0005t0009g0085others(5): Show | 8 | 102 | 0.0784 | 9 | c.350 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54004426 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01884.hp2 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(11): Show | a0001c0001t0001g0090a0001c0001t0003g0098a0002c0002t0004g0041others(13): Show | 16 | 102 | 0.1569 | 9 | c.275 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 20/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54099513 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG03041.hp2 others(1): Show |
a0001a0004a0017others(1): Show | a0001c0001a0004c0004a0017c0011others(1): Show | a0001c0001t0003a0004c0004t0005a0017c0011t0012others(1): Show | a0001c0001t0003g0098a0004c0004t0005g0024a0017c0011t0012g0086others(1): Show | 4 | 102 | 0.0392 | 9 | c.191 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 15/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54198495 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02027.hp2 others(7): Show |
a0001a0004a0006others(4): Show | a0001c0001a0004c0004a0006c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0004c0004t0002others(7): Show | a0001c0001t0001g0090a0001c0001t0003g0098a0004c0004t0002g0096others(7): Show | 10 | 102 | 0.0980 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54199564 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG03209.hp2 |
a0002a0017a0036 | a0002c0021a0017c0011a0036c0019 | a0002c0021t0021a0017c0011t0012a0036c0019t0015 | a0002c0021t0021g0047a0017c0011t0012g0086a0036c0019t0015g0001 | 3 | 102 | 0.0294 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54199567 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01261.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(12): Show | a0001c0001t0001g0014a0001c0001t0001g0043a0001c0001t0001g0044others(15): Show | 18 | 102 | 0.1765 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54199570 | C | CAACAATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02258.hp2 others(4): Show |
a0001a0005a0015others(1): Show | a0001c0001a0005c0005a0015c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0090a0001c0001t0002g0070others(4): Show | 7 | 102 | 0.0686 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54199570 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02027.hp2 HG02615.hp2 others(3): Show |
a0001a0004a0006others(3): Show | a0001c0001a0004c0004a0006c0006others(3): Show | a0001c0001t0008a0004c0004t0002a0006c0006t0002others(3): Show | a0001c0001t0008g0003a0004c0004t0002g0096a0006c0006t0002g0050others(3): Show | 6 | 102 | 0.0588 | 9 | c.109 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54247881 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02886.hp2 others(2): Show |
a0001a0005a0022others(2): Show | a0001c0001a0005c0005a0022c0028others(2): Show | a0001c0001t0001a0005c0005t0004a0022c0028t0004others(2): Show | a0001c0001t0001g0101a0005c0005t0004g0076a0022c0028t0004g0013others(2): Show | 5 | 102 | 0.0490 | 9 | c.877 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar |