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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PATJ_chr1_61737480_62168915 | 61871555 | ATATTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(33): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0008a0001c0021others(33): Show | a0001c0001t0001a0001c0008t0001a0001c0021t0001others(33): Show | a0001c0001t0001g0019a0001c0008t0001g0067a0001c0021t0001g0113others(33): Show | 36 | 158 | 0.2279 | -9 | c.283 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 20/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61871557 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG01975.hp1 others(2): Show |
a0001a0004a0009others(1): Show | a0001c0058a0004c0101a0009c0097others(2): Show | a0001c0058t0002a0004c0101t0017a0009c0097t0034others(2): Show | a0001c0058t0002g0095a0004c0101t0017g0098a0009c0097t0034g0052others(2): Show | 5 | 158 | 0.0317 | -9 | c.283 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 20/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61939676 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(12): Show |
a0002a0003a0004others(6): Show | a0002c0049a0002c0094a0002c0095others(10): Show | a0002c0049t0004a0002c0094t0002a0002c0095t0002others(11): Show | a0002c0049t0004g0029a0002c0094t0002g0002a0002c0095t0002g0030others(12): Show | 15 | 158 | 0.0949 | -9 | c.367 others(30): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61965121 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01192.hp1 others(7): Show |
a0001a0006a0010others(5): Show | a0001c0008a0001c0046a0006c0040others(7): Show | a0001c0008t0016a0001c0046t0016a0006c0040t0023others(7): Show | a0001c0008t0016g0047a0001c0046t0016g0106a0006c0040t0023g0123others(7): Show | 10 | 158 | 0.0633 | -9 | c.367 others(30): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61970777 | GCCACCAC others(2): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG03130.hp1 NA18522.hp1 |
a0045a0056a0058 | a0045c0065a0056c0074a0058c0086 | a0045c0065t0033a0056c0074t0019a0058c0086t0013 | a0045c0065t0033g0043a0056c0074t0019g0041a0058c0086t0013g0013 | 3 | 158 | 0.0190 | -9 | c.367 others(30): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62002709 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG01496.hp1 others(5): Show |
a0001a0006a0010others(2): Show | a0001c0008a0001c0022a0001c0046others(5): Show | a0001c0008t0016a0001c0022t0029a0001c0046t0016others(5): Show | a0001c0008t0016g0047a0001c0022t0029g0111a0001c0046t0016g0106others(5): Show | 8 | 158 | 0.0506 | -9 | c.386 others(30): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62080782 | CTTCATAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp2 others(24): Show |
a0001a0002a0003others(13): Show | a0001c0047a0001c0093a0001c0105others(20): Show | a0001c0047t0035a0001c0093t0004a0001c0105t0006others(22): Show | a0001c0047t0035g0126a0001c0093t0004g0051a0001c0105t0006g0004others(24): Show | 27 | 158 | 0.1709 | -9 | c.424 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATL1_chr11_59631716_59674037 | 59671537 | AAACAACA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG02056.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0002g0004a0001c0001t0004g0012others(7): Show | 12 | 276 | 0.0435 | -9 | c.-26 others(20): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 2501 | chr11 | TogoVar | ||||||
PATL2_chr15_44660732_44716323 | 44662288 | AGAGGAGC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0095a0001c0001t0001g0100others(28): Show | 35 | 262 | 0.1336 | -9 | c.*36 others(20): Show |
PATL2 | ENSG00000229474.8 | transcript | ENST00000682850.1 | protein_coding | 3443 | chr15 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79632352 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18966.hp2 NA18972.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0136a0001c0003t0008g0137a0001c0003t0008g0138others(1): Show | 4 | 256 | 0.0156 | -9 | c.517 others(28): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222209696 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02698.hp1 HG02735.hp2 others(14): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0001t0001g0244others(14): Show | 17 | 328 | 0.0518 | -9 | c.117 others(28): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222260569 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02523.hp1 HG03942.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0041a0001c0001t0002g0187a0001c0001t0003g0011others(3): Show | 6 | 328 | 0.0183 | -9 | c.587 others(28): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36863714 | CTCTGTGA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG01071.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(14): Show | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0126others(20): Show | 23 | 274 | 0.0839 | -9 | c.101 others(30): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36919839 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(80): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0087a0001c0001t0001g0089a0001c0001t0001g0103others(80): Show | 83 | 274 | 0.3029 | -9 | c.910 others(26): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36924731 | AGGTGGAA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01891.hp1 HG02055.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(19): Show | a0001c0001t0001g0088a0001c0001t0001g0138a0001c0001t0001g0212others(33): Show | 36 | 274 | 0.1314 | -9 | c.781 others(26): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
PAX7_chr1_18625846_18753866 | 18681736 | TTTTATTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG02135.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0001t0002g0047a0001c0002t0002g0100a0001c0002t0006g0168others(3): Show | 6 | 302 | 0.0199 | -9 | c.587 others(28): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAX7_chr1_18625846_18753866 | 18723180 | GGCTTCTC others(2): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG02572.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0060 | a0001c0001t0002g0148a0001c0001t0003g0036a0001c0002t0060g0122 | 3 | 302 | 0.0099 | -9 | c.115 others(30): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAX8_chr2_113210997_113283921 | 113233677 | CAAAAAAC others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0023a0001c0001t0032others(1): Show | a0001c0001t0018g0028a0001c0001t0023g0212a0001c0001t0032g0037others(1): Show | 4 | 300 | 0.0133 | -9 | c.108 others(28): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52613507 | AATTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01167.hp1 others(27): Show |
a0001a0005 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0001a0001c0003t0016a0001c0005t0001others(2): Show | a0001c0003t0001g0237a0001c0003t0001g0238a0001c0003t0001g0239others(27): Show | 30 | 300 | 0.1000 | -9 | c.196 others(28): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 17/31 | chr3 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164724670 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02280.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0057a0001c0001t0002g0017a0001c0001t0004g0112others(6): Show | 9 | 184 | 0.0489 | -9 | c.266 others(28): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125886799 | TACAACTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(116): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0021others(116): Show | 119 | 294 | 0.4048 | -9 | c.275 others(28): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PBX4_chr19_19556713_19623687 | 19605416 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01358.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0285a0001c0001t0001g0345others(13): Show | 16 | 376 | 0.0426 | -9 | c.120 others(26): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
PCBP1_chr2_70082477_70094203 | 70093003 | AGTTTTTG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01261.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0000a0001c0001t0007g0000 | 19 | 404 | 0.0470 | -9 | c.*41 others(20): Show |
PCBP1 | ENSG00000169564.7 | transcript | ENST00000303577.7 | protein_coding | 3801 | chr2 | TogoVar | ||||||
PCBP1_chr2_70082477_70094203 | 70093007 | TTTGTTGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02451.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 16 | 404 | 0.0396 | -9 | c.*41 others(20): Show |
PCBP1 | ENSG00000169564.7 | transcript | ENST00000303577.7 | protein_coding | 3805 | chr2 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45662271 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0060a0001c0001t0002g0241a0001c0001t0002g0268others(4): Show | 7 | 292 | 0.0240 | -9 | c.-27 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100328371 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00735.hp2 others(27): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0067others(27): Show | 30 | 174 | 0.1724 | -9 | c.143 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100348906 | CTTCCTTT others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 HG03540.hp1 others(4): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0008 | a0001c0001t0001a0002c0003t0001a0008c0008t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0002c0003t0001g0050others(4): Show | 7 | 174 | 0.0402 | -9 | c.164 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100354074 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01175.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0141a0001c0001t0001g0170others(9): Show | 12 | 174 | 0.0690 | -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 | 100422065 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0021a0001c0001t0001g0116a0001c0001t0001g0157others(1): Show | 4 | 174 | 0.0230 | -9 | c.174 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100452013 | TCTCTCCC others(2): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 HG06807.hp2 |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0002a0008c0008t0001 | a0001c0001t0001g0170a0001c0001t0002g0066a0008c0008t0001g0103 | 3 | 174 | 0.0172 | -9 | c.189 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100452096 | CCTCTTCC others(2): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02886.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0120a0001c0001t0001g0142a0001c0001t0004g0121 | 3 | 174 | 0.0172 | -9 | c.189 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | chr13 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 91873038 | TATTTATG others(2): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 154 | 0.0065 | -9 | c.541 others(26): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 5/10 | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92084091 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01106.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0030a0001c0001t0001g0039a0001c0001t0001g0042others(46): Show | 49 | 154 | 0.3182 | -9 | 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 | 92111219 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 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 | 92118731 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 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 | 92132285 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0053a0001c0001t0012g0052 | 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 | 92148054 | CTTCCTTT others(2): Show |
C | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0088 | 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 | 92295738 | TTTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0061 | 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 | 92331279 | TTTCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0023 | 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 | 92348511 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01255.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0042a0001c0001t0001g0060a0001c0001t0001g0064others(20): Show | 23 | 154 | 0.1494 | -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 | 92355417 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01496.hp1 HG01934.hp1 others(20): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0034others(20): Show | 23 | 154 | 0.1494 | -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 | 92412505 | AATAGTAT others(2): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0025a0001c0002t0002others(1): Show | a0001c0001t0002g0001a0001c0001t0025g0059a0001c0002t0002g0008others(1): Show | 4 | 154 | 0.0260 | -9 | c.334 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92563047 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01243.hp1 others(24): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0047a0001c0001t0001g0108a0001c0001t0001g0109others(24): Show | 27 | 154 | 0.1753 | -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 | 5637921 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | NA18971.hp1 NA18974.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0091a0003c0003t0004g0092 | 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 | |||||
PCDH15_chr10_53797771_54806231 | 53828207 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01192.hp1 others(23): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0042a0002c0002others(16): Show | a0001c0001t0003a0001c0001t0020a0001c0042t0016others(21): Show | a0001c0001t0003g0087a0001c0001t0020g0095a0001c0042t0016g0002others(23): Show | 26 | 102 | 0.2549 | -9 | c.421 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 31/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54019701 | GAGCTTAA others(2): Show |
G | intron_variant | MODIFIER | HG04184.hp2 NA20905.hp2 |
a0005a0006 | a0005c0005a0006c0006 | a0005c0005t0005a0006c0006t0005 | a0005c0005t0005g0036a0006c0006t0005g0055 | 2 | 102 | 0.0196 | -9 | c.275 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 20/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54151236 | TGAAAGTA others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 |
a0017a0036 | a0017c0011a0036c0019 | a0017c0011t0012a0036c0019t0015 | a0017c0011t0012g0086a0036c0019t0015g0001 | 2 | 102 | 0.0196 | -9 | c.178 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 14/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54404588 | AGGCAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02258.hp1 others(6): Show |
a0003a0005a0016others(4): Show | a0003c0003a0005c0005a0016c0012others(4): Show | a0003c0003t0001a0003c0003t0004a0005c0005t0004others(5): Show | a0003c0003t0001g0017a0003c0003t0001g0084a0003c0003t0004g0088others(6): Show | 9 | 102 | 0.0882 | -9 | c.158 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54415779 | TAAACAAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00738.hp2 others(37): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0021others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0039others(37): Show | 40 | 102 | 0.3922 | -9 | c.158 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54421838 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp1 HG03492.hp2 others(2): Show |
a0001a0002a0011others(2): Show | a0001c0001a0002c0002a0011c0017others(2): Show | a0001c0001t0014a0002c0002t0023a0011c0017t0002others(2): Show | a0001c0001t0014g0067a0002c0002t0023g0034a0011c0017t0002g0072others(2): Show | 5 | 102 | 0.0490 | -9 | c.158 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar |