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 | 62102178 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(69): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0008a0001c0021others(61): Show | a0001c0001t0002a0001c0001t0010a0001c0008t0016others(65): Show | a0001c0001t0002g0151a0001c0001t0010g0014a0001c0008t0016g0047others(69): Show | 72 | 158 | 0.4557 | -12 | c.437 others(31): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62125252 | AACAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0004 | a0004c0091 | a0004c0091t0001 | a0004c0091t0001g0057 | 1 | 158 | 0.0063 | -12 | c.504 others(31): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62136653 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02040.hp2 HG02280.hp2 others(4): Show |
a0001a0002a0021others(4): Show | a0001c0104a0002c0020a0021c0112others(4): Show | a0001c0104t0014a0002c0020t0025a0021c0112t0024others(4): Show | a0001c0104t0014g0114a0002c0020t0025g0112a0021c0112t0024g0006others(4): Show | 7 | 158 | 0.0443 | -12 | c.527 others(31): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62161331 | CTTTTTTT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0021 | a0021c0112 | a0021c0112t0024 | a0021c0112t0024g0006 | 1 | 158 | 0.0063 | -12 | c.*29 others(21): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 44/44 | 291 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
PATL1_chr11_59631716_59674037 | 59632673 | CTATATAT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0089a0001c0001t0001g0090others(1): Show | 4 | 276 | 0.0145 | -12 | c.*57 others(23): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 4042 | chr11 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59632747 | GATATATA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00733.hp2 others(25): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0060a0001c0001t0001g0075others(16): Show | 28 | 276 | 0.1015 | -12 | c.*56 others(23): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3968 | chr11 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59652064 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0008a0001c0009t0001 | a0001c0001t0001g0018a0001c0001t0001g0070a0001c0001t0001g0164others(4): Show | 8 | 276 | 0.0290 | -12 | c.142 others(29): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 11/18 | chr11 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59672310 | CTATATAT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 HG06807.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0026 | 3 | 276 | 0.0109 | -12 | c.-34 others(23): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3274 | chr11 | TogoVar | ||||||
PATL2_chr15_44660732_44716323 | 44675549 | GTCTGGGT others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02630.hp1 | a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0054 | 1 | 262 | 0.0038 | -12 | c.147 others(19): Show |
p.Leu others(11): Show |
PATL2 | ENSG00000229474.8 | transcript | ENST00000682850.1 | protein_coding | 5/18 | 715/2410 | 147/1632 | 49/543 | chr15 | TogoVar | ||
PAWR_chr12_79579879_79695964 | 79594700 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(80): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0005a0002c0002t0012others(7): Show | a0002c0002t0001g0169a0002c0002t0001g0170a0002c0002t0001g0171others(80): Show | 83 | 256 | 0.3242 | -12 | c.832 others(27): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613979 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG01981.hp1 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0002a0006c0008t0003 | a0001c0001t0002g0060a0006c0008t0003g0098 | 2 | 256 | 0.0078 | -12 | c.649 others(27): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79632300 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0025others(8): Show | a0001c0001t0002g0055a0001c0001t0002g0059a0001c0001t0002g0060others(40): Show | 43 | 256 | 0.1680 | -12 | c.517 others(31): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79632351 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0051a0001c0001t0029g0120 | 2 | 256 | 0.0078 | -12 | c.517 others(31): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79638896 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 | 1 | 256 | 0.0039 | -12 | c.517 others(31): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79639833 | CATTCCTA others(5): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0032a0001c0003t0003others(1): Show | a0001c0001t0003g0038a0001c0001t0003g0039a0001c0001t0003g0040others(4): Show | 7 | 256 | 0.0273 | -12 | c.517 others(31): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21722804 | AACATTCA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0014 | 1 | 400 | 0.0025 | -12 | c.*82 others(23): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 4324 | chr20 | TogoVar | ||||||
PAX2_chr10_100740582_100834944 | 100742843 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp2 HG03453.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0017a0001c0002t0024a0001c0003t0007 | a0001c0001t0017g0129a0001c0002t0024g0012a0001c0003t0007g0104 | 3 | 232 | 0.0129 | -12 | c.-34 others(23): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 2738 | chr10 | TogoVar | ||||||
PAX2_chr10_100740582_100834944 | 100805016 | TCTCACAT others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01099.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0005a0001c0002t0010a0001c0002t0011others(6): Show | a0001c0002t0005g0142a0001c0002t0005g0155a0001c0002t0005g0159others(19): Show | 22 | 232 | 0.0948 | -12 | c.617 others(29): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAX2_chr10_100740582_100834944 | 100805018 | TCACATAC others(5): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0220 | 1 | 232 | 0.0043 | -12 | c.617 others(29): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAX2_chr10_100740582_100834944 | 100805023 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG02273.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034a0001c0001t0042 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0073others(3): Show | 6 | 232 | 0.0259 | -12 | c.617 others(29): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAX2_chr10_100740582_100834944 | 100824353 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG03195.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0017a0001c0001t0032others(1): Show | a0001c0001t0001g0083a0001c0001t0017g0129a0001c0001t0017g0130others(2): Show | 5 | 232 | 0.0216 | -12 | c.920 others(27): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAX3_chr2_222194887_222303998 | 222209696 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0035a0001c0001t0001g0056a0001c0001t0001g0060others(32): Show | 35 | 328 | 0.1067 | -12 | c.117 others(31): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222212622 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 328 | 0.0031 | -12 | c.117 others(31): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222233079 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01069.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0095a0001c0001t0002g0154a0001c0001t0003g0294others(18): Show | 21 | 328 | 0.0640 | -12 | c.587 others(27): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222260553 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0149 | 1 | 328 | 0.0031 | -12 | c.587 others(31): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222260566 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02074.hp2 HG02572.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0173a0001c0001t0001g0226a0001c0001t0002g0258others(6): Show | 9 | 328 | 0.0274 | -12 | c.587 others(31): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222260579 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00741.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0104a0001c0001t0001g0233others(17): Show | 20 | 328 | 0.0610 | -12 | c.587 others(31): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222260591 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(2): Show | 5 | 328 | 0.0152 | -12 | c.587 others(31): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222291969 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0315a0001c0001t0001g0322a0001c0001t0005g0317others(1): Show | 4 | 328 | 0.0122 | -12 | c.586 others(29): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222299317 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03654.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0096 | 2 | 328 | 0.0061 | -12 | c.-71 others(21): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 320 | chr2 | TogoVar | ||||||
PAX4_chr7_127605292_127623142 | 127607988 | TACACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(160): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0015a0003c0004others(7): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(17): Show | a0002c0002t0001g0003a0002c0002t0001g0007a0002c0002t0001g0011others(48): Show | 163 | 428 | 0.3808 | -12 | c.*30 others(23): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 2303 | chr7 | TogoVar | ||||||
PAX4_chr7_127605292_127623142 | 127612467 | GTGGATGG others(5): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0008 | a0008c0017 | a0008c0017t0025 | a0008c0017t0025g0080 | 1 | 428 | 0.0023 | -12 | c.716 others(27): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
PAX4_chr7_127605292_127623142 | 127612749 | AAATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 NA18955.hp1 NA18987.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0056a0001c0001t0011g0115a0001c0001t0011g0121 | 4 | 428 | 0.0094 | -12 | c.715 others(27): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
PAX4_chr7_127605292_127623142 | 127621957 | CACCTGGC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 428 | 0.0023 | -12 | c.-42 others(23): Show |
PAX4 | ENSG00000106331.19 | transcript | ENST00000639438.3 | protein_coding | 3816 | chr7 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36869863 | GATGGATG others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0004a0001c0002t0016a0001c0006t0025 | a0001c0002t0004g0239a0001c0002t0016g0174a0001c0006t0025g0093others(1): Show | 4 | 274 | 0.0146 | -12 | c.101 others(33): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36919839 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0162 | 1 | 274 | 0.0037 | -12 | c.910 others(29): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36929235 | GAGGAAGG others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01071.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(33): Show | a0001c0001t0001g0079a0001c0001t0001g0117a0001c0001t0001g0150others(43): Show | 46 | 274 | 0.1679 | -12 | c.781 others(29): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36988662 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03927.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0028 | a0001c0001t0021g0022a0001c0001t0028g0092 | 2 | 274 | 0.0073 | -12 | c.604 others(31): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36988675 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 274 | 0.0037 | -12 | c.604 others(31): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36996691 | GGGCCCAG others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0070 | 1 | 274 | 0.0037 | -12 | c.604 others(29): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 37034098 | CTTTTTTT others(5): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0271 | 1 | 274 | 0.0037 | -12 | c.-79 others(19): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 1/10 | 68 | chr9 | TogoVar | |||||
PAX6_chr11_31784026_31816322 | 31794420 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0048a0001c0001t0001g0238a0001c0001t0002g0050others(3): Show | 6 | 376 | 0.0160 | -12 | c.724 others(27): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 9/13 | chr11 | TogoVar | ||||||
PAX6_chr11_31784026_31816322 | 31812300 | CTCTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 376 | 0.0027 | -12 | c.-15 others(23): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 979 | chr11 | TogoVar | ||||||
PAX6_chr11_31784026_31816322 | 31814990 | GTCTCTCT others(5): Show |
G | upstream_gene_variant | MODIFIER | NA19004.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0226a0001c0001t0003g0117 | 2 | 376 | 0.0053 | -12 | c.-42 others(23): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3669 | chr11 | TogoVar | ||||||
PAX7_chr1_18625846_18753866 | 18635511 | TAGGAAGG others(5): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA18962.hp1 NA18977.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(1): Show | a0001c0001t0001g0144a0001c0003t0001g0139a0001c0003t0001g0140others(4): Show | 7 | 302 | 0.0232 | -12 | c.451 others(27): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAX7_chr1_18625846_18753866 | 18655770 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01981.hp2 HG02148.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0014a0001c0003t0002 | a0001c0002t0014g0243a0001c0003t0002g0248a0001c0003t0002g0249 | 3 | 302 | 0.0099 | -12 | c.586 others(31): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAX7_chr1_18625846_18753866 | 18667388 | GAGAAAGG others(5): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0290 | 1 | 302 | 0.0033 | -12 | c.587 others(31): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAX7_chr1_18625846_18753866 | 18667391 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG02723.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0064a0001c0001t0002g0128a0001c0001t0002g0222others(10): Show | 13 | 302 | 0.0431 | -12 | c.587 others(31): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAX7_chr1_18625846_18753866 | 18669556 | TAGGTTAT others(5): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0126 | 1 | 302 | 0.0033 | -12 | c.587 others(31): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAX7_chr1_18625846_18753866 | 18681164 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0007a0001c0002t0002a0001c0002t0004others(10): Show | a0001c0001t0007g0097a0001c0001t0007g0098a0001c0002t0002g0039others(13): Show | 16 | 302 | 0.0530 | -12 | c.587 others(31): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |