| 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 | 62002709 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG02145.hp2 others(10): Show |
a0001a0002a0007others(5): Show | a0001c0001a0002c0012a0002c0030others(9): Show | a0001c0001t0002a0002c0012t0005a0002c0012t0010others(10): Show | a0001c0001t0002g0151a0002c0012t0005g0130a0002c0012t0010g0150others(10): Show | 13 | 158 | 0.0823 | -8 | c.386 others(29): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62024657 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
a0001a0002a0003others(19): Show | a0001c0026a0001c0047a0002c0029others(25): Show | a0001c0026t0001a0001c0047t0035a0002c0029t0001others(26): Show | a0001c0026t0001g0116a0001c0047t0035g0126a0002c0029t0001g0138others(27): Show | 30 | 158 | 0.1899 | -8 | c.395 others(27): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62026480 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01167.hp1 others(9): Show |
a0001a0006a0009others(4): Show | a0001c0021a0001c0022a0001c0047others(9): Show | a0001c0021t0001a0001c0022t0029a0001c0047t0035others(9): Show | a0001c0021t0001g0113a0001c0022t0029g0111a0001c0047t0035g0126others(9): Show | 12 | 158 | 0.0760 | -8 | c.395 others(27): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62094558 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02922.hp2 HG02970.hp1 others(4): Show |
a0001a0002a0007others(3): Show | a0001c0021a0002c0012a0007c0071others(4): Show | a0001c0021t0001a0002c0012t0005a0007c0071t0005others(4): Show | a0001c0021t0001g0113a0002c0012t0005g0130a0007c0071t0005g0108others(4): Show | 7 | 158 | 0.0443 | -8 | c.437 others(27): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62099347 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp2 others(24): Show |
a0001a0002a0003others(12): Show | a0001c0047a0001c0059a0001c0093others(20): Show | a0001c0047t0035a0001c0059t0009a0001c0093t0004others(22): Show | a0001c0047t0035g0126a0001c0059t0009g0045a0001c0093t0004g0051others(24): Show | 27 | 158 | 0.1709 | -8 | c.437 others(27): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62136657 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01192.hp2 others(13): Show |
a0001a0002a0004others(10): Show | a0001c0047a0001c0093a0002c0049others(13): Show | a0001c0047t0035a0001c0093t0004a0002c0049t0004others(13): Show | a0001c0047t0035g0126a0001c0093t0004g0051a0002c0049t0004g0029others(13): Show | 16 | 158 | 0.1013 | -8 | c.527 others(27): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62161326 | GATTTCTT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02922.hp1 NA18993.hp1 |
a0009a0052 | a0009c0097a0052c0111 | a0009c0097t0034a0052c0111t0021 | a0009c0097t0034g0052a0052c0111t0021g0073 | 2 | 158 | 0.0127 | -8 | c.*27 others(17): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 44/44 | 273 | chr1 | TogoVar | |||||
| PATL1_chr11_59631716_59674037 | 59632665 | ATATATAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00733.hp2 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0075a0001c0001t0001g0095others(11): Show | 22 | 276 | 0.0797 | -8 | c.*57 others(19): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 4050 | chr11 | TogoVar | ||||||
| PATL1_chr11_59631716_59674037 | 59671538 | AACAACAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01106.hp1 others(37): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0030others(32): Show | 40 | 276 | 0.1449 | -8 | c.-26 others(19): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 2502 | chr11 | TogoVar | ||||||
| PATL1_chr11_59631716_59674037 | 59672366 | GTATATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01261.hp2 HG02027.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0029others(10): Show | 14 | 276 | 0.0507 | -8 | c.-34 others(19): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3330 | chr11 | TogoVar | ||||||
| PATL2_chr15_44660732_44716323 | 44714453 | GTAAGAAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02559.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002a0003c0003t0003 | a0001c0001t0001g0002a0003c0003t0002g0034a0003c0003t0002g0035others(3): Show | 7 | 262 | 0.0267 | -8 | c.-36 others(19): Show |
PATL2 | ENSG00000229474.8 | transcript | ENST00000682850.1 | protein_coding | 3131 | chr15 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79613979 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01261.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0055a0001c0001t0002g0105a0001c0001t0002g0114others(3): Show | 6 | 256 | 0.0234 | -8 | c.649 others(23): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79632304 | TATACATA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG03831.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0027a0002c0002t0001others(1): Show | a0001c0001t0002g0057a0001c0001t0002g0121a0001c0003t0027g0135others(5): Show | 8 | 256 | 0.0313 | -8 | c.517 others(27): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79638896 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG02630.hp1 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0022a0002c0002t0001g0187a0002c0002t0001g0228others(2): Show | 5 | 256 | 0.0195 | -8 | c.517 others(27): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAX2_chr10_100740582_100834944 | 100764680 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02486.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0008a0001c0002t0017a0001c0002t0025others(2): Show | a0001c0002t0008g0125a0001c0002t0008g0126a0001c0002t0008g0167others(8): Show | 11 | 232 | 0.0474 | -8 | c.410 others(27): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PAX2_chr10_100740582_100834944 | 100805016 | TCTCACAT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0009a0001c0002t0014others(1): Show | a0001c0002t0008g0167a0001c0002t0009g0001a0001c0002t0014g0009others(1): Show | 5 | 232 | 0.0216 | -8 | c.617 others(25): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PAX2_chr10_100740582_100834944 | 100805023 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG01099.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0055a0001c0001t0001g0070others(10): Show | 13 | 232 | 0.0560 | -8 | c.617 others(25): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PAX2_chr10_100740582_100834944 | 100824353 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02647.hp2 HG03704.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0044a0001c0003t0003a0001c0003t0007 | a0001c0002t0044g0181a0001c0003t0003g0150a0001c0003t0007g0131 | 3 | 232 | 0.0129 | -8 | c.920 others(23): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PAX3_chr2_222194887_222303998 | 222203012 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0061a0001c0001t0001g0142a0001c0001t0001g0143others(5): Show | 8 | 328 | 0.0244 | -8 | c.117 others(25): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| PAX3_chr2_222194887_222303998 | 222212622 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01081.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024a0001c0001t0004g0180a0001c0001t0004g0204others(15): Show | 18 | 328 | 0.0549 | -8 | c.117 others(27): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| PAX3_chr2_222194887_222303998 | 222216705 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0091a0001c0001t0001g0193others(3): Show | 6 | 328 | 0.0183 | -8 | c.117 others(27): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| PAX3_chr2_222194887_222303998 | 222291969 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0134a0001c0001t0001g0164a0001c0001t0001g0165others(11): Show | 14 | 328 | 0.0427 | -8 | c.586 others(25): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
| PAX3_chr2_222194887_222303998 | 222299317 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0119a0001c0001t0001g0151a0001c0001t0005g0317others(1): Show | 4 | 328 | 0.0122 | -8 | c.-71 others(17): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 320 | chr2 | TogoVar | ||||||
| PAX4_chr7_127605292_127623142 | 127607992 | CACACACA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01978.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0002g0001a0001c0001t0010g0032a0001c0001t0011g0108others(2): Show | 7 | 428 | 0.0164 | -8 | c.*30 others(19): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 2299 | chr7 | TogoVar | ||||||
| PAX4_chr7_127605292_127623142 | 127612462 | AATGGGTG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0019a0001c0003t0020 | a0001c0003t0005g0095a0001c0003t0019g0089a0001c0003t0020g0045 | 4 | 428 | 0.0094 | -8 | c.716 others(23): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
| PAX4_chr7_127605292_127623142 | 127612467 | GTGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG02602.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0002g0049a0001c0001t0003g0104a0001c0001t0009g0107others(2): Show | 6 | 428 | 0.0140 | -8 | c.716 others(23): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
| PAX4_chr7_127605292_127623142 | 127612934 | AGGATGGA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02135.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0002g0043a0001c0001t0004g0034a0001c0001t0015g0027others(2): Show | 10 | 428 | 0.0234 | -8 | c.715 others(21): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
| PAX5_chr9_36828269_37039268 | 36834417 | AGTGTGTG others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02717.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0026a0001c0002t0027a0001c0006t0025 | a0001c0002t0026g0244a0001c0002t0026g0247a0001c0002t0027g0238others(3): Show | 6 | 274 | 0.0219 | -8 | c.*61 others(19): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 10/10 | 6135 | chr9 | TogoVar | |||||
| PAX5_chr9_36828269_37039268 | 36869895 | AATGGATG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01071.hp2 HG01256.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0012a0001c0001t0029others(4): Show | a0001c0001t0002g0175a0001c0001t0002g0176a0001c0001t0012g0100others(5): Show | 8 | 274 | 0.0292 | -8 | c.101 others(29): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
| PAX5_chr9_36828269_37039268 | 36869931 | GATGGATA others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01361.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0212a0001c0001t0003g0044a0001c0001t0003g0071others(12): Show | 15 | 274 | 0.0547 | -8 | c.101 others(29): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
| PAX5_chr9_36828269_37039268 | 36882267 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG01071.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0105a0001c0001t0002g0175a0001c0001t0002g0176others(21): Show | 24 | 274 | 0.0876 | -8 | c.911 others(23): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
| PAX5_chr9_36828269_37039268 | 36929235 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02647.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0091a0001c0001t0003g0044a0001c0001t0007g0213others(7): Show | 10 | 274 | 0.0365 | -8 | c.781 others(25): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
| PAX5_chr9_36828269_37039268 | 36988681 | AAAAAAGA others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01928.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0082a0001c0001t0001g0182a0001c0001t0001g0227others(6): Show | 9 | 274 | 0.0329 | -8 | c.604 others(27): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
| PAX5_chr9_36828269_37039268 | 36993755 | AGGGGACT others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG01074.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0107a0001c0001t0001g0131a0001c0001t0002g0091others(36): Show | 39 | 274 | 0.1423 | -8 | c.604 others(25): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
| PAX6_chr11_31784026_31816322 | 31794420 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG02523.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0024others(6): Show | 12 | 376 | 0.0319 | -8 | c.724 others(23): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 9/13 | chr11 | TogoVar | ||||||
| PAX6_chr11_31784026_31816322 | 31814990 | GTCTCTCT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(21): Show | 37 | 376 | 0.0984 | -8 | c.-42 others(19): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3669 | chr11 | TogoVar | ||||||
| PAX7_chr1_18625846_18753866 | 18626602 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG02109.hp2 HG02486.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0047a0001c0001t0003g0042a0001c0001t0003g0044others(10): Show | 13 | 302 | 0.0431 | -8 | c.-50 others(19): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4243 | chr1 | TogoVar | ||||||
| PAX7_chr1_18625846_18753866 | 18655770 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG02148.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0147a0001c0001t0001g0151a0001c0001t0002g0128others(3): Show | 6 | 302 | 0.0199 | -8 | c.586 others(27): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAX7_chr1_18625846_18753866 | 18667391 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00673.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0062a0001c0001t0001g0087a0001c0001t0001g0102others(40): Show | 43 | 302 | 0.1424 | -8 | c.587 others(27): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAX7_chr1_18625846_18753866 | 18694461 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01891.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0144a0001c0002t0001g0187a0001c0002t0001g0216others(7): Show | 10 | 302 | 0.0331 | -8 | c.786 others(25): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAX7_chr1_18625846_18753866 | 18700077 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02027.hp1 HG02027.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0155a0001c0001t0002g0017a0001c0001t0003g0051others(12): Show | 15 | 302 | 0.0497 | -8 | c.787 others(23): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAX7_chr1_18625846_18753866 | 18714206 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02559.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0007a0001c0002t0017others(1): Show | a0001c0001t0004g0063a0001c0002t0007g0104a0001c0002t0017g0291others(1): Show | 4 | 302 | 0.0133 | -8 | c.115 others(29): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAX7_chr1_18625846_18753866 | 18727368 | TCATACAC others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp1 HG01256.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(9): Show | a0001c0001t0003g0118a0001c0001t0007g0067a0001c0001t0007g0097others(12): Show | 15 | 302 | 0.0497 | -8 | c.115 others(27): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAX7_chr1_18625846_18753866 | 18727371 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02258.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0015a0001c0002t0001others(8): Show | a0001c0001t0002g0091a0001c0001t0015g0276a0001c0002t0001g0176others(8): Show | 11 | 302 | 0.0364 | -8 | c.115 others(27): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAX7_chr1_18625846_18753866 | 18744429 | AGGATGGA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00735.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(6): Show | a0001c0001t0001g0035a0001c0001t0001g0064a0001c0001t0001g0196others(12): Show | 15 | 302 | 0.0497 | -8 | c.140 others(25): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAX8_chr2_113210997_113283921 | 113276106 | CTGGGGAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0015a0001c0001t0003g0125a0001c0001t0022g0124 | 4 | 300 | 0.0133 | -8 | c.25+ others(23): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
| PAX9_chr14_36656860_36684362 | 36664355 | GGGGTCCC others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(107): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0077a0001c0001t0001g0196a0001c0001t0001g0198others(75): Show | 110 | 446 | 0.2466 | -8 | c.631 others(23): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PAXBP1_chr21_32728899_32776755 | 32760898 | CGTGCGTG others(1): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA19043.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0095a0001c0001t0001g0213a0002c0005t0001g0035 | 3 | 360 | 0.0083 | -8 | c.975 others(23): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 5/17 | chr21 | TogoVar | ||||||
| PBDC1_chrX_76168062_76183314 | 76170001 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 293 | 0.0068 | -8 | c.-31 others(19): Show |
PBDC1 | ENSG00000102390.11 | transcript | ENST00000373358.8 | protein_coding | 3060 | chrX | TogoVar | ||||||
| PBLD_chr10_68277660_68337928 | 68298757 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG01257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0095others(9): Show | 12 | 364 | 0.0330 | -8 | c.85- others(23): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 2/9 | chr10 | TogoVar |