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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAGE1_chrX_49682447_49700984 | 49689706 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0038others(28): Show | 35 | 322 | 0.1087 | -8 | c.293 others(23): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49689820 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02109.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0038a0001c0001t0001g0054a0001c0001t0001g0055others(3): Show | 8 | 322 | 0.0248 | -8 | c.293 others(23): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49689826 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02723.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0033 | 6 | 322 | 0.0186 | -8 | c.293 others(23): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49690041 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG01993.hp2 NA18747.hp1 NA18946.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0045 | 17 | 322 | 0.0528 | -8 | c.293 others(23): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49690083 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG01993.hp2 NA18747.hp1 NA18946.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0045 | 17 | 322 | 0.0528 | -8 | c.293 others(23): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49694021 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02896.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0051a0001c0001t0003g0031a0001c0001t0003g0032 | 5 | 322 | 0.0155 | -8 | c.166 others(21): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 3/5 | chrX | TogoVar | ||||||
PAGE2B_chrX_55070030_55083909 | 55072967 | GAGAATTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 325 | 0.0031 | -8 | c.-21 others(19): Show |
PAGE2B | ENSG00000238269.9 | transcript | ENST00000374971.2 | protein_coding | 2062 | chrX | TogoVar | ||||||
PAGE2B_chrX_55070030_55083909 | 55076352 | GTATATGT others(1): Show |
G | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 325 | 0.0031 | -8 | c.85- others(21): Show |
PAGE2B | ENSG00000238269.9 | transcript | ENST00000374971.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAGE3_chrX_55253415_55269916 | 55262703 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(126): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0020others(15): Show | 129 | 333 | 0.3874 | -8 | c.193 others(23): Show |
PAGE3 | ENSG00000204279.8 | transcript | ENST00000374951.6 | protein_coding | 3/4 | chrX | TogoVar | ||||||
PAGE5_chrX_55215346_55229108 | 55227793 | CAGGAGAG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 299 | 0.0033 | -8 | c.*37 others(19): Show |
PAGE5 | ENSG00000158639.13 | transcript | ENST00000374955.8 | protein_coding | 3686 | chrX | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102834150 | TATAAATA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG02970.hp2 |
a0001 | a0001c0007a0001c0015 | a0001c0007t0002a0001c0007t0017a0001c0015t0002 | a0001c0007t0002g0040a0001c0007t0017g0043a0001c0015t0002g0148 | 3 | 312 | 0.0096 | -8 | c.*50 others(19): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2738 | chr12 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102882669 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01168.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0004a0001c0007t0002others(1): Show | a0001c0001t0002g0155a0001c0001t0002g0168a0001c0001t0002g0170others(5): Show | 8 | 312 | 0.0256 | -8 | c.353 others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102889402 | CATAGATA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0047others(18): Show | 22 | 312 | 0.0705 | -8 | c.352 others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102908655 | TTATGAAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(175): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0018a0001c0001t0001g0156a0001c0001t0001g0162others(172): Show | 178 | 312 | 0.5705 | -8 | c.168 others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
PAICS_chr4_56431260_56469578 | 56437256 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01258.hp1 HG02129.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0048 | a0001c0001t0001g0284a0001c0001t0010g0164a0001c0001t0048g0163 | 3 | 380 | 0.0079 | -8 | c.16+ others(21): Show |
PAICS | ENSG00000128050.9 | transcript | ENST00000512576.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PAICS_chr4_56431260_56469578 | 56438371 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02523.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0038 | a0001c0001t0023g0067a0001c0001t0023g0068a0001c0001t0038g0147 | 3 | 380 | 0.0079 | -8 | c.16+ others(23): Show |
PAICS | ENSG00000128050.9 | transcript | ENST00000512576.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PAIP1_chr5_43521267_43562077 | 43539452 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG02071.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0155a0001c0001t0002g0156a0001c0001t0003g0310others(12): Show | 15 | 350 | 0.0429 | -8 | c.735 others(23): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP2B_chr2_71177738_71232103 | 71201000 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020a0001c0001t0005g0162a0001c0001t0005g0163others(3): Show | 8 | 378 | 0.0212 | -8 | c.138 others(25): Show |
PAIP2B | ENSG00000124374.9 | transcript | ENST00000244221.9 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
PAIP2B_chr2_71177738_71232103 | 71201008 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02809.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0030 | a0001c0001t0001g0050a0001c0001t0012g0019a0001c0001t0012g0031others(2): Show | 8 | 378 | 0.0212 | -8 | c.138 others(25): Show |
PAIP2B | ENSG00000124374.9 | transcript | ENST00000244221.9 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
PAIP2_chr5_139336854_139374717 | 139365141 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(126): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 129 | 344 | 0.3750 | -8 | c.318 others(23): Show |
PAIP2 | ENSG00000120727.13 | transcript | ENST00000265192.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAIP2_chr5_139336854_139374717 | 139370470 | CTTTATTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01099.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0025others(38): Show | 46 | 344 | 0.1337 | -8 | c.*16 others(19): Show |
PAIP2 | ENSG00000120727.13 | transcript | ENST00000265192.9 | protein_coding | 754 | chr5 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77381138 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107a0001c0001t0002g0190a0001c0001t0002g0191others(3): Show | 6 | 302 | 0.0199 | -8 | c.191 others(25): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196735294 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0008a0001c0003t0006others(1): Show | a0001c0001t0006g0062a0001c0001t0008g0068a0001c0003t0006g0066others(5): Show | 8 | 178 | 0.0449 | -8 | c.-48 others(19): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4562 | chr3 | TogoVar | ||||||
PAK3_chrX_111091191_111232361 | 111096869 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0032 | a0001c0001t0004g0194a0001c0001t0032g0193 | 2 | 195 | 0.0103 | -8 | c.-35 others(25): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK3_chrX_111091191_111232361 | 111204878 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0194 | 1 | 195 | 0.0051 | -8 | c.140 others(27): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK3_chrX_111091191_111232361 | 111224306 | TTGGAGGG others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0190 | 1 | 195 | 0.0051 | -8 | c.*38 others(19): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 18/18 | 3862 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PAK4_chr19_39120786_39184404 | 39121485 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(122): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0004a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(121): Show | 125 | 368 | 0.3397 | -8 | c.-45 others(19): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 4300 | chr19 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39135324 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(87): Show |
a0001a0003a0011 | a0001c0001a0003c0008a0011c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(86): Show | 90 | 368 | 0.2446 | -8 | c.-96 others(25): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39144166 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(145): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0025others(144): Show | 148 | 368 | 0.4022 | -8 | c.-96 others(27): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK5_chr20_9532370_9844076 | 9602291 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01516.hp1 HG03098.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0009others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0004others(6): Show | a0001c0002t0002g0031a0001c0002t0002g0035a0001c0002t0003g0157others(7): Show | 10 | 208 | 0.0481 | -8 | c.205 others(27): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 3/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9677045 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01081.hp1 others(25): Show |
a0001a0002a0005 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(9): Show | a0001c0002t0002g0021a0001c0002t0002g0031a0001c0002t0002g0035others(25): Show | 28 | 208 | 0.1346 | -8 | c.-11 others(27): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9733387 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0005others(10): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(24): Show | a0001c0002t0002g0016a0001c0002t0002g0021a0001c0002t0002g0031others(99): Show | 102 | 208 | 0.4904 | -8 | c.-16 others(29): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9766371 | TCAAGCAG others(1): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03041.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0001c0009others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0006t0002others(6): Show | a0001c0002t0002g0083a0001c0002t0002g0084a0001c0002t0003g0087others(7): Show | 10 | 208 | 0.0481 | -8 | c.-16 others(29): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9766522 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(116): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0005others(10): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(29): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0049others(116): Show | 119 | 208 | 0.5721 | -8 | c.-16 others(29): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40262029 | TTGGGGAG others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(98): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0007a0001c0001t0023a0001c0002t0001others(24): Show | a0001c0001t0007g0028a0001c0001t0023g0383a0001c0002t0001g0008others(96): Show | 101 | 426 | 0.2371 | -8 | c.-5- others(23): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40270610 | GACAGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01168.hp2 others(22): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0002a0003c0004t0003a0003c0004t0006others(7): Show | a0003c0004t0002g0070a0003c0004t0003g0048a0003c0004t0003g0217others(20): Show | 25 | 426 | 0.0587 | -8 | c.859 others(25): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAK6_chr15_40234063_40282487 | 40276749 | CGTGTGTG others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0068a0001c0002t0003others(5): Show | a0001c0001t0003g0001a0001c0001t0003g0030a0001c0001t0003g0107others(29): Show | 33 | 426 | 0.0775 | -8 | c.*68 others(17): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 11/11 | 688 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
PALB2_chr16_23598165_23646310 | 23611078 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01081.hp1 others(24): Show |
a0001a0002a0012others(2): Show | a0001c0001a0002c0002a0012c0015others(2): Show | a0001c0001t0001a0002c0002t0001a0012c0015t0001others(2): Show | a0001c0001t0001g0176a0001c0001t0001g0189a0002c0002t0001g0019others(22): Show | 27 | 326 | 0.0828 | -8 | c.320 others(27): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 11/12 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645083 | CTATATAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG02630.hp1 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0064others(5): Show | 8 | 326 | 0.0245 | -8 | c.-39 others(19): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3774 | chr16 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70492448 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02257.hp2 others(15): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0004a0004c0005others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(12): Show | a0001c0001t0001g0245a0001c0001t0005g0215a0001c0001t0009g0217others(15): Show | 18 | 308 | 0.0584 | -8 | c.-30 others(27): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168523218 | AGAGGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01952.hp2 HG02559.hp2 others(1): Show |
a0002a0004 | a0002c0012a0002c0017a0004c0011 | a0002c0012t0019a0002c0017t0003a0004c0011t0001others(1): Show | a0002c0012t0019g0141a0002c0017t0003g0084a0004c0011t0001g0083others(1): Show | 4 | 156 | 0.0256 | -8 | c.908 others(27): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168539568 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01175.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0010others(7): Show | a0001c0001t0001g0080a0001c0001t0004g0081a0001c0002t0010g0099others(7): Show | 10 | 156 | 0.0641 | -8 | c.908 others(27): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168542717 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | NA18906.hp1 NA19240.hp1 |
a0002 | a0002c0003a0002c0010 | a0002c0003t0006a0002c0010t0006 | a0002c0003t0006g0113a0002c0010t0006g0100 | 2 | 156 | 0.0128 | -8 | c.908 others(27): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168548032 | GCAAACAA others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01175.hp2 others(5): Show |
a0002a0003a0004 | a0002c0007a0002c0012a0002c0017others(2): Show | a0002c0007t0001a0002c0007t0004a0002c0012t0001others(5): Show | a0002c0007t0001g0025a0002c0007t0004g0027a0002c0012t0001g0085others(5): Show | 8 | 156 | 0.0513 | -8 | c.908 others(27): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168689432 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02976.hp2 HG03041.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0006a0001c0002t0006a0001c0002t0007others(2): Show | a0001c0001t0006g0095a0001c0002t0006g0090a0001c0002t0007g0050others(2): Show | 5 | 156 | 0.0321 | -8 | c.133 others(27): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168709507 | CAAGGAAG others(1): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0006a0004c0009 | a0001c0002t0007a0002c0006t0006a0004c0009t0003others(1): Show | a0001c0002t0007g0079a0002c0006t0006g0155a0004c0009t0003g0040others(2): Show | 5 | 156 | 0.0321 | -8 | c.162 others(25): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168783044 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02965.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0002t0010a0001c0004t0017 | a0001c0001t0005g0097a0001c0002t0010g0144a0001c0004t0017g0048 | 3 | 156 | 0.0192 | -8 | c.196 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168785846 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0004a0002c0006t0007 | a0001c0001t0004g0081a0002c0006t0007g0046 | 2 | 156 | 0.0128 | -8 | c.196 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168809332 | TTCTTCTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01071.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0017a0001c0001t0001g0059others(15): Show | 18 | 156 | 0.1154 | -8 | c.196 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168811776 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03130.hp1 HG03486.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0006a0001c0002t0007a0002c0006t0007others(1): Show | a0001c0001t0006g0095a0001c0002t0007g0050a0002c0006t0007g0042others(1): Show | 4 | 156 | 0.0256 | -8 | c.196 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |