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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAX5_chr9_36828269_37039268 | 36973083 | C | CGGAACGG others(18): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0200 | 1 | 216 | 0.0046 | 25 | c.605 others(42): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36984435 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0253 | 1 | 44 | 0.0227 | 25 | c.605 others(44): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX7_chr1_18625846_18753866 | 18632311 | G | GAGAGAAC others(18): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0032 | 1 | 300 | 0.0033 | 25 | c.85+ others(38): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAX7_chr1_18625846_18753866 | 18681732 | T | TTTATTTT others(18): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0257 | 1 | 298 | 0.0034 | 25 | c.587 others(43): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAX9_chr14_36656860_36684362 | 36673530 | C | CAGGGGGA others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(343): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0066 others(246): Show |
346 | 442 | 0.7828 | 25 | c.772 others(42): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PBK_chr8_27804624_27842817 | 27816343 | C | CATATATA others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0209 | 1 | 278 | 0.0036 | 25 | c.595 others(42): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
PBK_chr8_27804624_27842817 | 27816343 | C | CTTATATA others(18): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03209.hp2 |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0041 | 2 | 279 | 0.0072 | 25 | c.595 others(42): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52636757 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18949.hp2 NA19062.hp2 others(1): Show |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0001a0005c0010t0001 | a0001c0002t0001g0160 a0001c0002t0001g0191 a0001c0002t0001g0253 others(1): Show |
4 | 112 | 0.0357 | 25 | c.108 others(44): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52637773 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 | 1 | 125 | 0.0080 | 25 | c.108 others(44): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52676114 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0009 | a0002c0009t0017 | a0002c0009t0017g0288 | 1 | 289 | 0.0035 | 25 | c.236 others(42): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 3/31 | chr3 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125793366 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 121 | 0.0083 | 25 | c.274 others(44): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX4_chr19_19556713_19623687 | 19572418 | C | CTCAGATG others(18): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0056 | 1 | 374 | 0.0027 | 25 | c.194 others(42): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
PCBP2_chr12_53447102_53486162 | 53470378 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0251 a0001c0001t0007g0252 |
2 | 180 | 0.0111 | 25 | c.883 others(42): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45646093 | C | CTCTCTCT others(18): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 237 | 0.0042 | 25 | c.-27 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45815205 | G | GTGGTGAG others(18): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01943.hp1 HG02027.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0053 others(8): Show |
11 | 290 | 0.0379 | 25 | c.-12 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45815262 | G | GTGAGTGG others(18): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 278 | 0.0036 | 25 | c.-12 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45815311 | G | GGTGAGTG others(18): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 290 | 0.0034 | 25 | c.-12 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100188294 | A | AAAAACAA others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0136 |
2 | 81 | 0.0247 | 25 | c.469 others(44): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92111219 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029 a0001c0001t0002g0090 |
2 | 24 | 0.0833 | 25 | c.303 others(46): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92147854 | T | TCTTTCTT others(18): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 153 | 0.0065 | 25 | c.303 others(46): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92326622 | C | CTATATAT others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02738.hp1 HG03017.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0009 | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0002g0140 others(1): Show |
4 | 147 | 0.0272 | 25 | c.314 others(46): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92326625 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 153 | 0.0065 | 25 | c.314 others(46): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92375166 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 19 | 0.0526 | 25 | c.314 others(46): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5373156 | T | TTTCTTTC others(18): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 115 | 0.0087 | 25 | c.285 others(48): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53822028 | A | ACATGTTA others(18): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0030 | a0030c0025 | a0030c0025t0007 | a0030c0025t0007g0079 | 1 | 100 | 0.0100 | 25 | c.436 others(44): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 32/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53823728 | A | ATCGAAGC others(18): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02145.hp1 HG02145.hp2 others(7): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0008a0001c0001t0014a0002c0002t0009others(6): Show | a0001c0001t0008g0003 a0001c0001t0014g0067 a0001c0001t0014g0070 others(7): Show |
10 | 100 | 0.1000 | 25 | c.436 others(44): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 32/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53888702 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 58 | 0.0172 | 25 | c.350 others(46): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54216044 | G | GGAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0070 | 1 | 4 | 0.2500 | 25 | c.986 others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 9/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53822028 | A | ACATGTTA others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp1 | a0023 | a0023c0031 | a0023c0031t0001 | a0023c0031t0001g0072 | 1 | 92 | 0.0109 | 25 | c.567 others(34): Show |
p.Tyr others(6): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 33/33 | 6032/6962 | 5697/5868 | 1899/1955 | chr10 | TogoVar | |||
PCDH15_chr10_53816099_54806231 | 53823728 | A | ATCGAAGC others(18): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02145.hp1 HG02145.hp2 others(6): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0028a0003c0024others(5): Show | a0001c0001t0001a0002c0028t0001a0003c0024t0001others(5): Show | a0001c0001t0001g0003 a0002c0028t0001g0022 a0003c0024t0001g0016 others(6): Show |
9 | 92 | 0.0978 | 25 | c.436 others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 32/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53888702 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 51 | 0.0196 | 25 | c.350 others(46): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54216044 | G | GGAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0064 | 1 | 4 | 0.2500 | 25 | c.986 others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 9/32 | chr10 | TogoVar | |||||||
PCDH17_chr13_57626744_57734311 | 57658764 | G | GTTTGTTT others(18): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 232 | 0.0043 | 25 | c.256 others(44): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0103 | 1 | 180 | 0.0056 | 25 | c.284 others(46): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30974246 | C | CTTCCTTT others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0002g0115 a0001c0001t0002g0174 a0001c0001t0006g0118 others(4): Show |
7 | 104 | 0.0673 | 25 | c.339 others(46): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31056458 | G | GAAAAAGA others(18): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0029 | 1 | 124 | 0.0081 | 25 | c.339 others(46): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66829717 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 3 | 0.3333 | 25 | c.313 others(46): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 66934558 | G | GAAAAAGA others(18): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00741.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0066 others(18): Show |
21 | 80 | 0.2625 | 25 | c.303 others(46): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
PCDHB12_chr5_141203719_141217571 | 141204212 | C | CAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0000 | 1 | 164 | 0.0061 | 25 | c.-46 others(36): Show |
PCDHB12 | ENSG00000120328.6 | transcript | ENST00000239450.4 | protein_coding | 4506 | chr5 | TogoVar | |||||||
PCED1B_chr12_47074621_47241660 | 47131673 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0138 | 1 | 200 | 0.0050 | 25 | c.-52 others(46): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 701973 | C | CAAAGAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02258.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0316 a0001c0001t0004g0004 a0001c0001t0004g0244 |
3 | 67 | 0.0448 | 25 | c.-41 others(36): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3858 | chr4 | TogoVar | |||||||
PCGF6_chr10_103297796_103356140 | 103302452 | G | GTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 181 | 0.0055 | 25 | c.*14 others(36): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 343 | chr10 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83038057 | A | AATATATA others(18): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0045 | a0045c0077 | a0045c0077t0003 | a0045c0077t0003g0012 | 1 | 186 | 0.0054 | 25 | c.330 others(46): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83050208 | G | GAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0053 | a0053c0075 | a0053c0075t0003 | a0053c0075t0003g0138 | 1 | 51 | 0.0196 | 25 | c.330 others(46): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83093492 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0108 | 1 | 53 | 0.0189 | 25 | c.330 others(46): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCMT1_chr6_149744741_149816419 | 149758208 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 138 | 0.0072 | 25 | c.55+ others(40): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46400579 | C | CGCAATCT others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003a0010a0012others(8): Show | a0003c0003a0003c0080a0003c0084others(10): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(12): Show | a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0132 others(55): Show |
58 | 330 | 0.1758 | 25 | c.479 others(42): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70971115 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0274 a0001c0002t0003g0275 |
2 | 253 | 0.0079 | 25 | c.604 others(42): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71119426 | G | GTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0060 | 1 | 349 | 0.0029 | 25 | c.*94 others(36): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4045 | chr14 | TogoVar | |||||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 NA18612.hp1 NA18747.hp2 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0005a0001c0002t0009a0001c0002t0047others(3): Show | a0001c0002t0005g0071 a0001c0002t0005g0080 a0001c0002t0009g0067 others(6): Show |
9 | 10 | 0.9000 | 25 | c.*94 others(36): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar |