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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAQR8_chr6_52357151_52412777 | 52364083 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00738.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0219a0001c0001t0001g0222others(45): Show | 54 | 390 | 0.1385 | 9 | c.-53 others(26): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PAQR9_chr3_142949585_142968674 | 142967453 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01074.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(5): Show | a0001c0001t0001g0000a0001c0001t0006g0000a0001c0001t0013g0000others(5): Show | 15 | 446 | 0.0336 | 9 | c.-41 others(20): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 3780 | chr3 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204568954 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 NA18522.hp1 |
a0002a0003a0010 | a0002c0001a0003c0009a0010c0027 | a0002c0001t0001a0003c0009t0009a0010c0027t0015 | a0002c0001t0001g0053a0003c0009t0009g0039a0010c0027t0015g0003 | 3 | 54 | 0.0556 | 9 | c.120 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204579116 | A | AATCATCA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02145.hp2 HG02622.hp1 others(1): Show |
a0002a0008 | a0002c0001a0002c0003a0008c0007 | a0002c0001t0002a0002c0001t0010a0002c0003t0008others(1): Show | a0002c0001t0002g0005a0002c0001t0010g0050a0002c0003t0008g0049others(1): Show | 4 | 54 | 0.0741 | 9 | c.120 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 204899184 | T | TCTCCCTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 HG02723.hp1 others(4): Show |
a0001a0003a0007others(1): Show | a0001c0002a0001c0008a0003c0005others(2): Show | a0001c0002t0001a0001c0002t0013a0001c0008t0001others(3): Show | a0001c0002t0001g0008a0001c0002t0001g0027a0001c0002t0013g0022others(4): Show | 7 | 54 | 0.1296 | 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 | 205365549 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03130.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0001a0001c0004t0002a0001c0008t0001others(4): Show | a0001c0002t0001g0008a0001c0004t0002g0035a0001c0008t0001g0054others(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 | 205380952 | A | AAGAATAT others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02723.hp1 others(9): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0008a0002c0003others(8): Show | a0001c0004t0002a0001c0008t0001a0002c0003t0008others(9): Show | a0001c0004t0002g0035a0001c0008t0001g0054a0002c0003t0008g0049others(9): Show | 12 | 54 | 0.2222 | 9 | c.263 others(30): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34129676 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01106.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0006 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0049a0001c0002t0001g0051a0001c0002t0003g0056others(3): Show | 6 | 100 | 0.0600 | 9 | c.354 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34233017 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02572.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0020others(1): Show | a0001c0001t0005a0001c0001t0017a0001c0002t0003others(4): Show | a0001c0001t0005g0090a0001c0001t0005g0094a0001c0001t0017g0040others(7): Show | 10 | 100 | 0.1000 | 9 | c.341 others(30): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34349580 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0004a0001c0003t0002a0001c0003t0004others(1): Show | a0001c0002t0004g0015a0001c0003t0002g0036a0001c0003t0004g0034others(1): Show | 4 | 100 | 0.0400 | 9 | c.206 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 14/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34431785 | C | CATGCCTG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00735.hp1 others(21): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(15): Show | a0001c0001t0001g0068a0001c0001t0001g0084a0001c0001t0005g0098others(21): Show | 24 | 100 | 0.2400 | 9 | c.714 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 5/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34432041 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02809.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0006a0001c0002t0009a0001c0002t0020others(4): Show | a0001c0001t0006g0018a0001c0002t0009g0096a0001c0002t0020g0061others(4): Show | 7 | 100 | 0.0700 | 9 | c.714 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 5/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34640708 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 HG03139.hp1 others(1): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0004t0002a0002c0005t0002others(1): Show | a0001c0001t0001g0068a0001c0004t0002g0028a0002c0005t0002g0021others(1): Show | 4 | 100 | 0.0400 | 9 | c.222 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34666777 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02280.hp1 HG02523.hp1 others(5): Show |
a0001a0005 | a0001c0003a0001c0004a0001c0012others(1): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0010others(5): Show | a0001c0003t0002g0010a0001c0003t0005g0099a0001c0003t0010g0045others(5): Show | 8 | 100 | 0.0800 | 9 | c.222 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34666777 | T | TCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0003a0001c0018 | a0001c0001t0002a0001c0003t0003a0001c0018t0005 | a0001c0001t0002g0027a0001c0003t0003g0087a0001c0018t0005g0093 | 3 | 100 | 0.0300 | 9 | c.222 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34701333 | A | ATGATGTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01358.hp2 HG02572.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0002a0001c0003t0014a0001c0004t0002others(1): Show | a0001c0002t0002g0005a0001c0003t0014g0009a0001c0004t0002g0003others(2): Show | 5 | 100 | 0.0500 | 9 | c.121 others(26): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34701333 | A | ATGTTGTT others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG03453.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(5): Show | a0001c0001t0001g0086a0001c0001t0008g0041a0001c0003t0001g0081others(5): Show | 8 | 100 | 0.0800 | 9 | c.121 others(26): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34741174 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0029a0001c0002t0004g0032a0001c0002t0004g0033others(1): Show | 4 | 100 | 0.0400 | 9 | c.121 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
PARD6G_chr18_80152232_80252514 | 80168912 | T | TACAAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01081.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(8): Show | a0001c0001t0003g0002a0001c0001t0003g0020a0001c0001t0003g0022others(70): Show | 74 | 382 | 0.1937 | 9 | c.296 others(26): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
PARG_chr10_49813279_49947027 | 49836307 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01175.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0228a0001c0001t0001g0229others(19): Show | 22 | 292 | 0.0753 | 9 | c.254 others(28): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
PARG_chr10_49813279_49947027 | 49906159 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG03540.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0239others(4): Show | 7 | 292 | 0.0240 | 9 | c.173 others(28): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
PARN_chr16_14430701_14635260 | 14470433 | G | GGATGATG others(2): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0009a0001c0001t0002g0036a0001c0001t0002g0068others(9): Show | 12 | 169 | 0.0710 | 9 | c.167 others(30): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | ||||||
PARN_chr16_14430701_14635260 | 14470437 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024a0001c0001t0001g0057a0001c0001t0003g0044 | 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 | 140035993 | G | GAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054a0001c0001t0002g0058a0001c0001t0002g0083others(4): Show | 7 | 360 | 0.0194 | 9 | c.132 others(28): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
PARP15_chr3_122572650_122644047 | 122584573 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02074.hp2 HG02145.hp2 others(7): Show |
a0002a0003a0008others(2): Show | a0002c0002a0003c0003a0008c0009others(2): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0013others(6): Show | a0002c0002t0002g0268a0002c0002t0002g0269a0002c0002t0003g0267others(7): Show | 10 | 356 | 0.0281 | 9 | c.186 others(26): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
PARP16_chr15_65253099_65291883 | 65273276 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(97): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(7): Show | a0001c0001t0001g0079a0001c0001t0002g0002a0001c0001t0002g0008others(76): Show | 100 | 316 | 0.3165 | 9 | c.175 others(26): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
PARP2_chr14_20338635_20362904 | 20341532 | C | CTATAAAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0244a0001c0001t0001g0245a0001c0001t0001g0248others(7): Show | 10 | 420 | 0.0238 | 9 | c.-21 others(20): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 2102 | chr14 | TogoVar | ||||||
PARP2_chr14_20338635_20362904 | 20352558 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01496.hp2 others(27): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0013t0001 | a0001c0002t0001g0020a0001c0002t0001g0044a0001c0002t0001g0045others(21): Show | 30 | 420 | 0.0714 | 9 | c.600 others(24): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PARP4_chr13_24415931_24517778 | 24423533 | A | AAAAATAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(146): Show |
a0001a0005a0009others(18): Show | a0001c0001a0001c0017a0001c0018others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0017t0001others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(140): Show | 149 | 362 | 0.4116 | 9 | c.498 others(28): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 33/33 | chr13 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24466796 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00673.hp2 others(58): Show |
a0001a0002a0003others(8): Show | a0001c0018a0002c0040a0003c0003others(10): Show | a0001c0018t0001a0002c0040t0001a0003c0003t0001others(10): Show | a0001c0018t0001g0119a0001c0018t0001g0176a0002c0040t0001g0158others(58): Show | 61 | 362 | 0.1685 | 9 | c.213 others(28): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 17/33 | chr13 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24510553 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00673.hp2 others(66): Show |
a0001a0002a0003others(8): Show | a0001c0018a0002c0002a0002c0040others(10): Show | a0001c0018t0001a0002c0002t0001a0002c0040t0001others(10): Show | a0001c0018t0001g0118a0001c0018t0001g0119a0002c0002t0001g0127others(66): Show | 69 | 362 | 0.1906 | 9 | c.-2+ others(24): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 1/33 | chr13 | TogoVar | ||||||
PARP9_chr3_122522924_122569300 | 122556141 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01081.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0016others(13): Show | 19 | 436 | 0.0436 | 9 | c.50- others(20): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
PARPBP_chr12_102115183_102202520 | 102157812 | G | GTAGTATC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01496.hp2 HG01884.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0002c0005t0002 | a0001c0002t0002g0029a0002c0005t0002g0028a0002c0005t0002g0289others(3): Show | 8 | 344 | 0.0233 | 9 | c.495 others(26): Show |
PARPBP | ENSG00000185480.12 | transcript | ENST00000327680.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PARPBP_chr12_102115183_102202520 | 102184046 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01169.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0126a0001c0001t0001g0127others(17): Show | 22 | 344 | 0.0640 | 9 | c.126 others(28): Show |
PARPBP | ENSG00000185480.12 | transcript | ENST00000327680.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PARVA_chr11_12372571_12540356 | 12395105 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0032others(3): Show | a0001c0001t0012g0232a0001c0001t0020g0231a0001c0001t0032g0168others(3): Show | 6 | 286 | 0.0210 | 9 | c.136 others(28): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PARVA_chr11_12372571_12540356 | 12533808 | C | CTGAGGAG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0030a0001c0001t0051a0001c0001t0066others(4): Show | a0001c0001t0030g0224a0001c0001t0030g0254a0001c0001t0051g0214others(5): Show | 8 | 286 | 0.0280 | 9 | c.*58 others(20): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 13/13 | 5884 | chr11 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTCCTCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01943.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0003g0120a0001c0001t0006g0157a0001c0001t0009g0154others(10): Show | 13 | 332 | 0.0392 | 9 | c.113 others(28): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151562830 | G | GGGGGCAG others(2): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 221 | 0.0045 | 9 | c.-10 others(20): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 844 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562891 | G | GGTGGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0209 | 1 | 221 | 0.0045 | 9 | c.-97 others(18): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 783 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562916 | C | CGGGGGGC others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02723.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0043a0001c0002t0005g0061 | 2 | 221 | 0.0091 | 9 | c.-95 others(18): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 758 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151602697 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 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 | 151653868 | C | CTCCCTCC others(2): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0157 | 1 | 221 | 0.0045 | 9 | c.717 others(26): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62012169 | A | AGCTCACT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(75): Show |
a0001a0006a0008others(32): Show | a0001c0001a0001c0008a0001c0021others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(70): Show | a0001c0001t0001g0019a0001c0001t0002g0076a0001c0001t0002g0151others(75): Show | 78 | 158 | 0.4937 | 9 | c.386 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62036871 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01071.hp1 others(17): Show |
a0001a0003a0006others(11): Show | a0001c0059a0003c0055a0003c0100others(14): Show | a0001c0059t0009a0003c0055t0004a0003c0100t0003others(14): Show | a0001c0059t0009g0045a0003c0055t0004g0087a0003c0100t0003g0008others(17): Show | 20 | 158 | 0.1266 | 9 | c.396 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62148120 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(14): Show |
a0006a0008a0009others(8): Show | a0006c0113a0008c0016a0008c0069others(12): Show | a0006c0113t0003a0008c0016t0003a0008c0069t0003others(12): Show | a0006c0113t0003g0055a0008c0016t0003g0005a0008c0016t0003g0153others(14): Show | 17 | 158 | 0.1076 | 9 | c.527 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79638897 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02523.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0013 | a0001c0001t0002g0043a0001c0001t0002g0044a0001c0001t0002g0052others(3): Show | 6 | 256 | 0.0234 | 9 | c.517 others(28): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721618 | T | TACATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03453.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0009 | 3 | 400 | 0.0075 | 9 | c.*70 others(20): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3138 | chr20 | TogoVar | ||||||
PAX2_chr10_100740582_100834944 | 100824396 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01192.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0049a0001c0001t0002g0111a0001c0001t0002g0161others(1): Show | 4 | 232 | 0.0172 | 9 | c.920 others(24): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36860375 | A | AGATGACC others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009a0001c0002t0079 | a0001c0001t0001g0108a0001c0002t0009g0112a0001c0002t0009g0119others(2): Show | 5 | 274 | 0.0183 | 9 | c.101 others(30): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 37003169 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02698.hp1 HG03654.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0037a0001c0001t0039a0001c0001t0040others(8): Show | a0001c0001t0037g0268a0001c0001t0039g0001a0001c0001t0040g0002others(8): Show | 11 | 274 | 0.0402 | 9 | c.476 others(24): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 4/9 | chr9 | TogoVar |