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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PABPC4_chr1_39555816_39581790 | 39558101 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0011others(6): Show | 21 | 374 | 0.0562 | -9 | c.*30 others(20): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 2714 | chr1 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163175744 | AAGGAGGA others(2): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0046a0001c0001t0002g0067a0001c0001t0003g0102 | 3 | 130 | 0.0231 | -9 | c.613 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163236135 | ATGGCATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00741.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0026others(58): Show | 61 | 130 | 0.4692 | -9 | c.614 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163269922 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG03225.hp2 HG06807.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0019a0001c0001t0002g0057a0001c0001t0016g0059 | 3 | 130 | 0.0231 | -9 | c.614 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66081431 | AAAACAAA others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG01167.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0002 | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0001g0125others(5): Show | 8 | 322 | 0.0248 | -9 | c.356 others(28): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66103513 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0011a0003c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(182): Show | 185 | 322 | 0.5745 | -9 | c.356 others(28): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66202743 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02148.hp2 NA18906.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0153a0001c0001t0001g0159others(7): Show | 10 | 322 | 0.0311 | -9 | c.445 others(26): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66215902 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG03942.hp1 NA18942.hp2 NA18960.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0118others(5): Show | 8 | 322 | 0.0248 | -9 | c.661 others(24): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACSIN1_chr6_34461076_34540223 | 34463481 | CCATCATC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00738.hp2 others(34): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0015others(34): Show | 37 | 310 | 0.1194 | -9 | c.-28 others(20): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 2594 | chr6 | TogoVar | ||||||
PACSIN1_chr6_34461076_34540223 | 34504288 | ATATTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0060a0001c0001t0002g0069a0001c0001t0002g0071others(6): Show | 9 | 310 | 0.0290 | -9 | c.-63 others(28): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACSIN2_chr22_42864773_43020149 | 43019241 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00741.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0070others(63): Show | 66 | 294 | 0.2245 | -9 | c.-43 others(20): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 4093 | chr22 | TogoVar | ||||||
PACSIN3_chr11_47172522_47191434 | 47174367 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG00741.hp1 others(43): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(14): Show | 46 | 364 | 0.1264 | -9 | c.*35 others(20): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 3154 | chr11 | TogoVar | ||||||
PACSIN3_chr11_47172522_47191434 | 47190100 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02129.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0024a0001c0001t0001g0057others(5): Show | 19 | 364 | 0.0522 | -9 | c.-38 others(20): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 3667 | chr11 | TogoVar | ||||||
PADI1_chr1_17200128_17251007 | 17206683 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01928.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0061a0001c0001t0001g0067a0001c0001t0001g0068others(12): Show | 15 | 406 | 0.0370 | -9 | c.92+ others(24): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI2_chr1_17061761_17124451 | 17113251 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(294): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(65): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0004others(286): Show | 297 | 356 | 0.8343 | -9 | c.92+ others(24): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
PADI3_chr1_17244098_17289233 | 17256542 | GGGATCCC others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(47): Show |
a0002a0003a0008others(1): Show | a0002c0003a0002c0008a0002c0026others(3): Show | a0002c0003t0002a0002c0003t0003a0002c0003t0007others(7): Show | a0002c0003t0002g0025a0002c0003t0002g0163a0002c0003t0002g0166others(43): Show | 50 | 368 | 0.1359 | -9 | c.93- others(24): Show |
PADI3 | ENSG00000142619.4 | transcript | ENST00000375460.3 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2621605 | GTCTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01255.hp2 HG01261.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0234a0001c0001t0003g0217a0001c0001t0004g0202others(18): Show | 21 | 280 | 0.0750 | -9 | c.-19 others(30): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2685622 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00733.hp1 others(40): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(40): Show | 43 | 280 | 0.1536 | -9 | c.*38 others(20): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 8 | chr17 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117168446 | GTTTTTTT others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02809.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032a0001c0001t0069others(1): Show | a0001c0001t0031g0129a0001c0001t0031g0130a0001c0001t0031g0131others(5): Show | 8 | 432 | 0.0185 | -9 | c.*76 others(18): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 6/6 | 764 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
PAGE1_chrX_49682447_49700984 | 49684539 | GCGTGAGC others(2): Show |
G | downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 322 | 0.0031 | -9 | c.*29 others(20): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 2907 | chrX | TogoVar | ||||||
PAIP2B_chr2_71177738_71232103 | 71204173 | TCCATAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp1 others(64): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0009a0001c0001t0010others(8): Show | a0001c0001t0005g0011a0001c0001t0005g0012a0001c0001t0005g0020others(45): Show | 67 | 378 | 0.1773 | -9 | c.-11 others(26): Show |
PAIP2B | ENSG00000124374.9 | transcript | ENST00000244221.9 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
PAIP2_chr5_139336854_139374717 | 139362214 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG03942.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0167a0001c0001t0001g0243 | 3 | 344 | 0.0087 | -9 | c.-26 others(26): Show |
PAIP2 | ENSG00000120727.13 | transcript | ENST00000265192.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAK3_chrX_111091191_111232361 | 111134544 | TACAAAGG others(2): Show |
T | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 195 | 0.0051 | -9 | c.176 others(26): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK3_chrX_111091191_111232361 | 111219190 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0004g0191others(2): Show | 5 | 195 | 0.0256 | -9 | c.154 others(28): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39143592 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02622.hp2 HG02965.hp2 others(5): Show |
a0001a0008 | a0001c0001a0008c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0099a0001c0001t0001g0126a0001c0001t0003g0123others(5): Show | 8 | 368 | 0.0217 | -9 | c.-96 others(28): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39144152 | ATAGATAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(86): Show |
a0001a0011 | a0001c0001a0001c0018a0011c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(85): Show | 89 | 368 | 0.2419 | -9 | c.-96 others(28): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK5_chr20_9532370_9844076 | 9766513 | TTCAAGCA others(2): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG03209.hp2 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0010a0001c0009t0003 | a0001c0005t0010g0069a0001c0009t0003g0168 | 2 | 208 | 0.0096 | -9 | c.-16 others(30): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40241456 | GAGCTCAT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(263): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(99): Show | a0001c0001t0001g0006a0001c0001t0001g0075a0001c0001t0001g0085others(255): Show | 266 | 426 | 0.6244 | -9 | c.-11 others(26): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168785058 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0073a0001c0001t0001g0077others(28): Show | 31 | 156 | 0.1987 | -9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168809318 | CCTTCTTC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0073a0001c0001t0002g0089others(36): Show | 39 | 156 | 0.2500 | -9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109929863 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01891.hp2 HG02083.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0002g0053a0001c0001t0002g0080a0001c0001t0002g0081others(18): Show | 21 | 222 | 0.0946 | -9 | c.395 others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109958682 | GGGAAGGA others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG03098.hp2 HG03579.hp1 |
a0001a0003a0006 | a0001c0006a0003c0021a0006c0013 | a0001c0006t0024a0003c0021t0001a0006c0013t0001 | a0001c0006t0024g0188a0003c0021t0001g0193a0006c0013t0001g0157 | 3 | 222 | 0.0135 | -9 | c.496 others(28): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109971283 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01433.hp1 HG02056.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(4): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0137others(12): Show | 15 | 222 | 0.0676 | -9 | c.496 others(28): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110014802 | AAATGTAT others(2): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02572.hp2 HG02717.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0006t0028others(4): Show | a0001c0001t0001g0085a0001c0001t0001g0169a0001c0001t0008g0033others(5): Show | 8 | 222 | 0.0360 | -9 | c.497 others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110014804 | ATGTATAT others(2): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG03831.hp1 NA18960.hp1 others(2): Show |
a0002 | a0002c0002a0002c0015 | a0002c0002t0003a0002c0002t0004a0002c0015t0025 | a0002c0002t0003g0090a0002c0002t0003g0156a0002c0002t0004g0009others(2): Show | 5 | 222 | 0.0225 | -9 | c.497 others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110046906 | AAAATTCT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02647.hp1 others(9): Show |
a0001a0012 | a0001c0001a0001c0007a0012c0018 | a0001c0001t0001a0001c0007t0001a0001c0007t0032others(1): Show | a0001c0001t0001g0161a0001c0001t0001g0202a0001c0001t0001g0204others(9): Show | 12 | 222 | 0.0541 | -9 | c.582 others(28): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110088703 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01243.hp1 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0034a0001c0001t0001g0075a0001c0001t0001g0101others(37): Show | 40 | 222 | 0.1802 | -9 | c.583 others(28): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110110542 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00621.hp2 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0041a0001c0001t0001g0061a0001c0001t0001g0075others(52): Show | 55 | 222 | 0.2478 | -9 | c.583 others(28): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110173136 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001a0001c0007t0032 | a0001c0001t0001g0034a0001c0001t0001g0088a0001c0007t0001g0030others(5): Show | 8 | 222 | 0.0360 | -9 | c.*46 others(20): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 625 | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652731 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01069.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(29): Show | 34 | 380 | 0.0895 | -9 | c.45+ others(24): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67326221 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0025others(1): Show | a0001c0001t0002g0193a0001c0001t0007g0284a0001c0001t0007g0285others(3): Show | 6 | 290 | 0.0207 | -9 | c.185 others(28): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67330148 | AATAATAA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013 | a0001c0001t0010g0271a0001c0001t0010g0272a0001c0001t0010g0273others(2): Show | 5 | 290 | 0.0172 | -9 | c.185 others(28): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24573297 | TGGAGGAG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(23): Show | a0001c0001t0001g0098a0001c0001t0003g0162a0001c0001t0003g0374others(32): Show | 35 | 378 | 0.0926 | -9 | c.-29 others(18): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 154 | chr7 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24595509 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(62): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0182a0001c0001t0001g0183a0001c0001t0001g0187others(62): Show | 65 | 378 | 0.1720 | -9 | c.-3+ others(26): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24681205 | GTTTTTTC others(2): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0049 | a0001c0001t0009g0068a0001c0001t0049g0054a0001c0001t0049g0067 | 3 | 378 | 0.0079 | -9 | c.144 others(26): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102775368 | TGTGCAGG others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG02056.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(12): Show | 15 | 188 | 0.0798 | -9 | c.-37 others(30): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAN3_chr13_28133545_28300335 | 28156992 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0023a0001c0001t0024others(1): Show | a0001c0001t0017g0204a0001c0001t0017g0205a0001c0001t0023g0171others(2): Show | 5 | 252 | 0.0198 | -9 | c.431 others(28): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PANK1_chr10_89577988_89650242 | 89595816 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02040.hp1 HG02132.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0150a0001c0001t0001g0158a0001c0001t0001g0193others(6): Show | 11 | 366 | 0.0301 | -9 | c.900 others(26): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89595834 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(4): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0006a0001c0005t0007a0001c0006t0003 | a0001c0005t0006g0037a0001c0005t0007g0023a0001c0005t0007g0268others(3): Show | 7 | 366 | 0.0191 | -9 | c.900 others(26): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
PANK2_chr20_3884387_3934887 | 3930518 | TAGCTAAG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0080a0001c0001t0081a0001c0001t0082others(1): Show | a0001c0001t0080g0073a0001c0001t0081g0072a0001c0001t0082g0071others(1): Show | 4 | 422 | 0.0095 | -9 | c.*72 others(20): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 632 | chr20 | TogoVar |