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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PBRM1_chr3_52540367_52690913 | 52640185 | TCTGGTTA others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(163): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(12): Show | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(163): Show | 166 | 300 | 0.5533 | -15 | c.108 others(34): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52647452 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0120a0001c0002t0001g0287a0001c0002t0001g0289 | 3 | 300 | 0.0100 | -15 | c.813 others(30): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 8/31 | chr3 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52647454 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0150 | 1 | 300 | 0.0033 | -15 | c.813 others(30): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 8/31 | chr3 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52647456 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01433.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0183a0001c0002t0001g0243a0001c0002t0001g0246others(2): Show | 5 | 300 | 0.0167 | -15 | c.813 others(30): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 8/31 | chr3 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52647458 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03491.hp1 NA18944.hp2 NA19012.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0222a0001c0002t0001g0288a0001c0002t0009g0299 | 3 | 300 | 0.0100 | -15 | c.813 others(30): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 8/31 | chr3 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164603929 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 184 | 0.0054 | -15 | c.265 others(34): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 294 | 0.0034 | -15 | c.843 others(32): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125970300 | ATGTGTGG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 294 | 0.0034 | -15 | c.*43 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2924 | chr9 | TogoVar | ||||||
PBX4_chr19_19556713_19623687 | 19556747 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02970.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339a0001c0001t0001g0340a0001c0001t0001g0341 | 3 | 376 | 0.0080 | -15 | c.*52 others(26): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 4965 | chr19 | TogoVar | ||||||
PCARE_chr2_29056695_29079523 | 29069216 | TACTCTTT others(8): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 464 | 0.0022 | -15 | c.366 others(34): Show |
PCARE | ENSG00000179270.7 | transcript | ENST00000331664.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
PCARE_chr2_29056695_29079523 | 29069248 | GTTCATTG others(8): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 464 | 0.0022 | -15 | c.366 others(34): Show |
PCARE | ENSG00000179270.7 | transcript | ENST00000331664.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
PCBP1_chr2_70082477_70094203 | 70093007 | TTTGTTGT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000a0001c0001t0006g0000 | 108 | 404 | 0.2673 | -15 | c.*41 others(26): Show |
PCBP1 | ENSG00000169564.7 | transcript | ENST00000303577.7 | protein_coding | 3805 | chr2 | TogoVar | ||||||
PCBP2_chr12_53447102_53486162 | 53477665 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 | 1 | 348 | 0.0029 | -15 | c.105 others(34): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100157840 | CCTTATTT others(8): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(1): Show | 4 | 174 | 0.0230 | -15 | c.468 others(30): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100276213 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00738.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0033a0001c0001t0001g0038a0001c0001t0001g0053others(14): Show | 17 | 174 | 0.0977 | -15 | c.106 others(34): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100354074 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0018 | 1 | 174 | 0.0058 | -15 | c.164 others(36): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100452069 | TCCCTCTC others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02965.hp1 HG03139.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0088a0001c0001t0001g0115others(3): Show | 6 | 174 | 0.0345 | -15 | c.189 others(34): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCB_chr3_136245340_136335169 | 136254518 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00735.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030a0001c0002t0001g0032 | 2 | 300 | 0.0067 | -15 | c.184 others(32): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCCB_chr3_136245340_136335169 | 136260057 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 300 | 0.0033 | -15 | c.373 others(30): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92132285 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01106.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0030a0001c0001t0001g0039a0001c0001t0001g0042others(33): Show | 36 | 154 | 0.2338 | -15 | c.303 others(36): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92148057 | CCTTTCTT others(8): Show |
C | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 154 | 0.0065 | -15 | c.303 others(36): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92200883 | CTTTATTT others(8): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 154 | 0.0065 | -15 | c.303 others(32): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92331279 | TTTCTTCT others(8): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 154 | 0.0065 | -15 | c.314 others(36): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92412505 | AATAGTAT others(8): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 154 | 0.0065 | -15 | c.334 others(36): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92419669 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0021a0001c0001t0005g0050 | 2 | 154 | 0.0130 | -15 | c.334 others(36): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92481286 | ACACACAC others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0145 | 1 | 154 | 0.0065 | -15 | c.336 others(36): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92499636 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 | 1 | 154 | 0.0065 | -15 | c.336 others(36): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92507026 | TTTGTATG others(8): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012 | a0001c0001t0001g0047a0001c0001t0006g0053a0001c0001t0012g0052 | 3 | 154 | 0.0195 | -15 | c.336 others(36): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5312542 | GATATATA others(8): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 115 | 0.0087 | -15 | c.285 others(38): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5393657 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG02015.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0086a0001c0001t0001g0094a0001c0001t0001g0110others(2): Show | 5 | 115 | 0.0435 | -15 | c.285 others(38): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5476430 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA18955.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072a0001c0001t0006g0076 | 2 | 115 | 0.0174 | -15 | c.285 others(36): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5637921 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0111a0001c0001t0009g0112 | 2 | 115 | 0.0174 | -15 | c.307 others(36): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 53838748 | CTTTTTAA others(8): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG02965.hp2 others(2): Show |
a0002a0003a0013others(1): Show | a0002c0002a0003c0003a0013c0015others(1): Show | a0002c0002t0005a0003c0003t0001a0013c0015t0001others(1): Show | a0002c0002t0005g0016a0003c0003t0001g0009a0003c0003t0001g0017others(2): Show | 5 | 102 | 0.0490 | -15 | c.398 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 29/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53864319 | CAACTTCC others(8): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0009 | a0009c0008 | a0009c0008t0002 | a0009c0008t0002g0049 | 1 | 102 | 0.0098 | -15 | c.371 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53945463 | CATTGTTG others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp1 others(63): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0042a0002c0002others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0043others(63): Show | 66 | 102 | 0.6471 | -15 | c.312 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 23/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54316560 | ACACACAC others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01069.hp2 others(7): Show |
a0001a0004a0008others(3): Show | a0001c0001a0004c0004a0008c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0004c0004t0005others(4): Show | a0001c0001t0001g0022a0001c0001t0001g0039a0001c0001t0002g0070others(7): Show | 10 | 102 | 0.0980 | -15 | c.876 others(30): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54345801 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0059 | 1 | 102 | 0.0098 | -15 | c.594 others(30): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54559865 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG01934.hp2 others(16): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0042a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0020a0001c0042t0016others(16): Show | a0001c0001t0001g0014a0001c0001t0020g0095a0001c0042t0016g0002others(16): Show | 19 | 102 | 0.1863 | -15 | c.92- others(32): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54602928 | TTTTCTTG others(8): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG03540.hp1 |
a0003a0010 | a0003c0003a0010c0009 | a0003c0003t0019a0010c0009t0012 | a0003c0003t0019g0060a0010c0009t0012g0042 | 2 | 102 | 0.0196 | -15 | c.91+ others(32): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54761683 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02145.hp2 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(7): Show | a0001c0001t0001g0090a0001c0001t0003g0087a0001c0001t0003g0098others(8): Show | 11 | 102 | 0.1078 | -15 | c.-29 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53838748 | CTTTTTAA others(8): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0002a0003a0013others(1): Show | a0002c0006a0003c0003a0013c0017others(1): Show | a0002c0006t0001a0003c0003t0001a0013c0017t0001others(1): Show | a0002c0006t0001g0016a0003c0003t0001g0009a0003c0003t0001g0017others(2): Show | 5 | 94 | 0.0532 | -15 | c.398 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 29/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53864319 | CAACTTCC others(8): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0046 | 1 | 94 | 0.0106 | -15 | c.371 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 27/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53945463 | CATTGTTG others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp1 others(61): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0007a0002c0002others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(41): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(61): Show | 64 | 94 | 0.6809 | -15 | c.312 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 23/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54316560 | ACACACAC others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01069.hp1 others(5): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0004a0007c0019others(2): Show | a0001c0001t0001a0004c0004t0001a0007c0019t0001others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0062a0001c0001t0001g0064others(5): Show | 8 | 94 | 0.0851 | -15 | c.876 others(30): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54345801 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0055 | 1 | 94 | 0.0106 | -15 | c.594 others(30): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54559865 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG01934.hp2 others(16): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0002c0002others(13): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(14): Show | a0001c0001t0001g0014a0001c0007t0001g0087a0002c0002t0001g0052others(16): Show | 19 | 94 | 0.2021 | -15 | c.92- others(32): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54602928 | TTTTCTTG others(8): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG03540.hp1 |
a0026a0027 | a0026c0026a0027c0027 | a0026c0026t0001a0027c0027t0008 | a0026c0026t0001g0056a0027c0027t0008g0039 | 2 | 94 | 0.0213 | -15 | c.91+ others(32): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54761683 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02145.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0082a0001c0007t0001g0079a0001c0007t0001g0090others(8): Show | 11 | 94 | 0.1170 | -15 | c.-29 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH17_chr13_57626744_57734311 | 57641558 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02809.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033a0001c0001t0044 | a0001c0001t0002g0097a0001c0001t0033g0229a0001c0001t0044g0230 | 3 | 310 | 0.0097 | -15 | c.256 others(34): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCDH17_chr13_57626744_57734311 | 57641574 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00738.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186others(21): Show | 25 | 310 | 0.0807 | -15 | c.256 others(34): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |