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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PANK4_chr1_2503537_2531596 | 2529579 | TGGCGGGC others(2): Show |
T | upstream_gene_variant | MODIFIER | NA18944.hp1 NA18952.hp1 NA18954.hp1 others(4): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0002a0002c0003t0001 | a0001c0005t0002g0008a0002c0003t0001g0031 | 7 | 399 | 0.0175 | -9 | c.-30 others(20): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 2984 | chr1 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94134015 | ACACCTGC others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02257.hp1 others(12): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0086a0001c0001t0002g0087a0001c0001t0003g0080others(9): Show | 15 | 408 | 0.0368 | -9 | c.181 others(26): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73246397 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01433.hp2 others(26): Show |
a0001a0002a0003others(11): Show | a0001c0004a0001c0006a0002c0001others(14): Show | a0001c0004t0001a0001c0006t0002a0002c0001t0001others(15): Show | a0001c0004t0001g0202a0001c0004t0001g0203a0001c0006t0002g0033others(25): Show | 29 | 418 | 0.0694 | -9 | c.334 others(24): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73257753 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01081.hp1 others(28): Show |
a0001a0003a0004others(4): Show | a0001c0003a0001c0004a0001c0011others(6): Show | a0001c0003t0005a0001c0004t0001a0001c0011t0002others(8): Show | a0001c0003t0005g0386a0001c0004t0001g0240a0001c0004t0001g0244others(27): Show | 31 | 418 | 0.0742 | -9 | c.162 others(28): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPOLA_chr14_96497382_96572116 | 96500826 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0115others(12): Show | 17 | 310 | 0.0548 | -9 | c.-17 others(20): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 1555 | chr14 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116154344 | TCGCCGCC others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG03041.hp1 NA19240.hp1 |
a0007 | a0007c0058a0007c0059 | a0007c0058t0012a0007c0059t0013 | a0007c0058t0012g0162a0007c0059t0013g0221 | 2 | 234 | 0.0086 | -9 | c.187 others(16): Show |
p.Pro others(11): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 1/22 | 569/10971 | 187/4884 | 63/1627 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
PAPSS1_chr4_107608666_107725234 | 107686944 | CTCTAACA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(199): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0052others(196): Show | 202 | 276 | 0.7319 | -9 | c.550 others(22): Show |
PAPSS1 | ENSG00000138801.9 | transcript | ENST00000265174.5 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87660804 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0005g0211a0001c0001t0007g0210a0001c0001t0009g0212others(12): Show | 15 | 372 | 0.0403 | -9 | c.27+ others(22): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69301859 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG01496.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(1): Show | a0001c0001t0001g0258a0001c0001t0001g0260a0001c0001t0001g0261others(16): Show | 19 | 284 | 0.0669 | -9 | c.-27 others(28): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322691 | GGAAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(2): Show | 5 | 284 | 0.0176 | -9 | c.-27 others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322765 | AAGAAGAG others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG03139.hp2 NA18989.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0011a0002c0002t0002 | a0001c0001t0001g0230a0001c0003t0011g0134a0002c0002t0002g0174 | 3 | 284 | 0.0106 | -9 | c.-27 others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322781 | AGAAGACG others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02970.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0140a0001c0001t0001g0190a0001c0001t0004g0160 | 3 | 284 | 0.0106 | -9 | c.-27 others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322802 | AGAGGAAG others(2): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG02717.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0007a0001c0001t0001g0196a0001c0001t0001g0253others(2): Show | 5 | 284 | 0.0176 | -9 | c.-27 others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR7_chr1_25856484_25880708 | 25862012 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(24): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0012 | a0001c0003t0015a0002c0002t0008a0002c0002t0009others(1): Show | a0001c0003t0015g0045a0001c0003t0015g0047a0002c0002t0008g0007others(12): Show | 27 | 362 | 0.0746 | -9 | c.*77 others(18): Show |
PAQR7 | ENSG00000182749.6 | transcript | ENST00000675840.1 | protein_coding | 3/3 | 778 | chr1 | TogoVar | |||||
PAQR8_chr6_52357151_52412777 | 52398197 | CTTTTTTC others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(47): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0015a0001c0001t0018a0001c0001t0020others(21): Show | a0001c0001t0015g0014a0001c0001t0015g0031a0001c0001t0015g0195others(43): Show | 50 | 390 | 0.1282 | -9 | c.-52 others(26): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 204947545 | CCCCTCCC others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01109.hp1 others(46): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0001c0006others(23): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0013others(39): Show | a0001c0002t0001g0008a0001c0002t0001g0027a0001c0002t0004g0029others(46): Show | 49 | 54 | 0.9074 | -9 | c.223 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205323254 | CTGTAAGT others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02622.hp2 others(4): Show |
a0001a0004a0006others(2): Show | a0001c0002a0001c0004a0004c0026others(3): Show | a0001c0002t0004a0001c0004t0002a0001c0004t0014others(4): Show | a0001c0002t0004g0029a0001c0004t0002g0035a0001c0004t0014g0016others(4): Show | 7 | 54 | 0.1296 | -9 | c.263 others(30): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205381213 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp2 HG03041.hp2 others(3): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0003c0010others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0004t0021others(3): Show | a0001c0002t0001g0008a0001c0002t0004g0029a0001c0004t0021g0051others(3): Show | 6 | 54 | 0.1111 | -9 | c.263 others(30): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3_chr10_34104561_34820296 | 34120004 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0007a0001c0002t0020a0001c0004t0007 | a0001c0002t0007g0017a0001c0002t0007g0031a0001c0002t0020g0061others(1): Show | 4 | 100 | 0.0400 | -9 | c.354 others(26): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34301814 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0084a0001c0001t0005g0098a0001c0002t0002g0002others(1): Show | 4 | 100 | 0.0400 | -9 | c.306 others(30): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 20/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34562123 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003a0001c0002t0004 | a0001c0001t0005g0094a0001c0002t0003g0071a0001c0002t0004g0029others(2): Show | 5 | 100 | 0.0500 | -9 | c.223 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34600962 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01071.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0018others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0018t0005others(3): Show | a0001c0001t0001g0048a0001c0002t0001g0049a0001c0002t0001g0051others(4): Show | 7 | 100 | 0.0700 | -9 | c.223 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605570 | ATATATCT others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG03098.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0016others(1): Show | a0001c0001t0001g0059a0001c0001t0004g0019a0001c0002t0016g0025others(1): Show | 4 | 100 | 0.0400 | -9 | c.223 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605600 | ATATATCT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0016 | a0001c0001t0001g0060a0001c0002t0016g0025 | 2 | 100 | 0.0200 | -9 | c.223 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34701333 | ATGTTGTT others(2): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02145.hp1 HG02451.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0009others(2): Show | a0001c0001t0001g0048a0001c0001t0005g0094a0001c0002t0009g0091others(4): Show | 7 | 100 | 0.0700 | -9 | c.121 others(26): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34720448 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02572.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0020 | a0001c0001t0001g0059a0001c0001t0005g0090a0001c0001t0005g0094others(1): Show | 4 | 100 | 0.0400 | -9 | c.121 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34734322 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0017others(3): Show | a0001c0001t0002g0016a0001c0001t0006g0018a0001c0001t0017g0040others(3): Show | 6 | 100 | 0.0600 | -9 | c.121 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
PARG_chr10_49813279_49947027 | 49891615 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040a0001c0001t0001g0060a0001c0001t0001g0290others(5): Show | 8 | 292 | 0.0274 | -9 | c.173 others(28): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
PARG_chr10_49813279_49947027 | 49920464 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG03486.hp1 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0001a0001c0010t0005 | a0001c0004t0001g0003a0001c0004t0001g0004a0001c0010t0005g0002 | 3 | 292 | 0.0103 | -9 | c.166 others(28): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 6/17 | chr10 | TogoVar | ||||||
PARL_chr3_183824271_183889880 | 183836217 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(150): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0181a0001c0001t0001g0191others(138): Show | 153 | 358 | 0.4274 | -9 | c.829 others(26): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
PARL_chr3_183824271_183889880 | 183862435 | GAAGGTAC others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02055.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0181a0002c0002t0001g0014a0002c0002t0001g0016others(13): Show | 18 | 358 | 0.0503 | -9 | c.511 others(24): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
PARN_chr16_14430701_14635260 | 14470437 | GATTATTA others(2): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02027.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0020 | a0001c0001t0004g0062a0001c0001t0006g0140a0001c0001t0020g0045 | 3 | 169 | 0.0178 | -9 | c.167 others(30): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035944 | GGAGGAGG others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG02698.hp1 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0016a0003c0004t0003g0065a0003c0004t0003g0067others(5): Show | 9 | 360 | 0.0250 | -9 | c.132 others(28): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035971 | CGAGGAGG others(2): Show |
C | intron_variant | MODIFIER | NA18962.hp1 NA18975.hp1 NA19003.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0046others(4): Show | 9 | 360 | 0.0250 | -9 | c.132 others(28): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035993 | GAGGAGGA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00642.hp1 others(36): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0018 | a0001c0001t0002a0001c0008t0002a0006c0018t0002 | a0001c0001t0002g0005a0001c0001t0002g0015a0001c0001t0002g0023others(27): Show | 39 | 360 | 0.1083 | -9 | c.132 others(28): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
PARP14_chr3_122675839_122735840 | 122677560 | AAAAAAAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01496.hp1 NA18943.hp2 others(7): Show |
a0001a0012 | a0001c0001a0001c0005a0012c0020 | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(2): Show | a0001c0001t0002g0251a0001c0001t0003g0195a0001c0001t0003g0219others(7): Show | 10 | 366 | 0.0273 | -9 | c.-33 others(20): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3278 | chr3 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24426891 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01175.hp2 others(55): Show |
a0002a0005a0008others(14): Show | a0002c0002a0005c0005a0008c0010others(19): Show | a0002c0002t0001a0005c0005t0001a0008c0010t0003others(19): Show | a0002c0002t0001g0100a0002c0002t0001g0101a0002c0002t0001g0103others(54): Show | 58 | 362 | 0.1602 | -9 | c.484 others(26): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 32/33 | chr13 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24442236 | AGGCCTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(142): Show |
a0001a0005a0009others(16): Show | a0001c0001a0001c0017a0001c0018others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0017t0001others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(136): Show | 145 | 362 | 0.4006 | -9 | c.354 others(26): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 29/33 | chr13 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24507069 | CCGGGGCC others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG02622.hp2 others(3): Show |
a0041a0042a0043others(3): Show | a0041c0056a0042c0058a0043c0057others(3): Show | a0041c0056t0001a0042c0058t0001a0043c0057t0001others(3): Show | a0041c0056t0001g0022a0042c0058t0001g0020a0043c0057t0001g0021others(3): Show | 6 | 362 | 0.0166 | -9 | c.-1- others(24): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 1/33 | chr13 | TogoVar | ||||||
PARP6_chr15_72236181_72277554 | 72255094 | TGAGTTTG others(2): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01192.hp1 HG01884.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0057others(10): Show | 25 | 396 | 0.0631 | -9 | c.112 others(26): Show |
PARP6 | ENSG00000137817.17 | transcript | ENST00000569795.6 | protein_coding | 14/23 | chr15 | TogoVar | ||||||
PARP6_chr15_72236181_72277554 | 72266203 | AAGGTTCA others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03130.hp2 HG03225.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0049a0001c0003t0004g0170 | 3 | 396 | 0.0076 | -9 | c.82- others(22): Show |
PARP6 | ENSG00000137817.17 | transcript | ENST00000569795.6 | protein_coding | 4/23 | chr15 | TogoVar | ||||||
PARP8_chr5_50661637_50851519 | 50789326 | AGAGAACA others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0031a0001c0007t0029a0001c0007t0030 | a0001c0001t0031g0004a0001c0007t0029g0006a0001c0007t0030g0005 | 3 | 328 | 0.0092 | -9 | c.737 others(24): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PARVA_chr11_12372571_12540356 | 12415123 | GTCATGAC others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02145.hp1 HG02257.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0163a0001c0001t0003g0072a0001c0001t0003g0271others(17): Show | 20 | 286 | 0.0699 | -9 | c.136 others(28): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44034673 | CTGACCCC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(126): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | 332 | 0.3886 | -9 | c.112 others(28): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44110112 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(76): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0005a0001c0001t0001g0096a0001c0001t0001g0248others(76): Show | 79 | 332 | 0.2380 | -9 | c.274 others(26): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44111432 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(66): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0005a0001c0001t0001g0239a0001c0001t0001g0249others(66): Show | 69 | 332 | 0.2078 | -9 | c.274 others(26): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44142377 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0270a0001c0001t0001g0275a0001c0001t0002g0049others(23): Show | 26 | 332 | 0.0783 | -9 | c.712 others(26): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVG_chr22_44175925_44213469 | 44191388 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0001 | a0001c0001t0002g0053a0001c0001t0002g0308a0001c0001t0007g0109others(4): Show | 7 | 422 | 0.0166 | -9 | c.505 others(24): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151602697 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 221 | 0.0045 | -9 | c.28+ others(24): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151602712 | TAAGAAGA others(2): Show |
T | intron_variant | MODIFIER | HG01256.hp1 NA20752.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0002a0002c0008t0002 | a0001c0002t0002g0053a0002c0008t0002g0025 | 2 | 221 | 0.0091 | -9 | c.28+ others(24): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar |