view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0109 | 1 | 416 | 0.0024 | 24 | c.635 others(39): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0170 | 1 | 416 | 0.0024 | 24 | c.635 others(39): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0250 |
3 | 416 | 0.0072 | 24 | c.635 others(39): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANX1_chr11_94123841_94186968 | 94130552 | A | AAACAGCA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(292): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0004a0005c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 others(249): Show |
295 | 408 | 0.7230 | 24 | c.181 others(41): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50165885 | G | GCAATCCC others(17): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 440 | 0.0023 | 24 | c.-48 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4845 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50165885 | G | GCAATCCC others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(129): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(56): Show |
132 | 440 | 0.3000 | 24 | c.-48 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4845 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50165906 | C | CCTGCAAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02258.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0026a0001c0002t0001a0001c0002t0008others(1): Show | a0001c0001t0026g0121 a0001c0002t0001g0134 a0001c0002t0008g0010 others(1): Show |
9 | 440 | 0.0205 | 24 | c.-48 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4824 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50165996 | C | CGCCTGCA others(17): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG02055.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0001t0026a0001c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0026g0121 a0001c0002t0001g0005 others(4): Show |
13 | 440 | 0.0296 | 24 | c.-47 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4734 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166073 | C | CCAATCCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01515.hp1 HG01516.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(11): Show |
20 | 440 | 0.0455 | 24 | c.-46 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4657 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166121 | C | CCAATCCC others(17): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 440 | 0.0023 | 24 | c.-46 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4609 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166140 | A | AGCCTGCA others(17): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0002 | 1 | 440 | 0.0023 | 24 | c.-45 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4590 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166161 | C | CCACGCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0001 | 1 | 440 | 0.0023 | 24 | c.-45 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4569 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166164 | C | CGCCTGCA others(17): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 440 | 0.0023 | 24 | c.-45 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4566 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166233 | T | TCAAGCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 NA18939.hp1 NA18973.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 a0001c0002t0001g0019 |
3 | 440 | 0.0068 | 24 | c.-44 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4497 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166377 | T | TCACGCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0113 |
2 | 440 | 0.0046 | 24 | c.-43 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4353 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166508 | G | GTCCCAGC others(17): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03453.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0021 a0001c0002t0007g0099 |
3 | 440 | 0.0068 | 24 | c.-42 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4222 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166508 | G | GTCCCAGC others(17): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp1 others(22): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0006 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0003 a0001c0002t0001g0019 a0001c0003t0001g0003 others(6): Show |
25 | 440 | 0.0568 | 24 | c.-42 others(35): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4222 | chr22 | TogoVar | |||||||
PAPOLB_chr7_4852738_4867030 | 4861834 | G | GCACGTCC others(17): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(196): Show |
a0002a0003a0004others(7): Show | a0002c0002a0002c0004a0002c0005others(13): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0015others(26): Show | a0002c0002t0002g0000 a0002c0002t0004g0000 a0002c0002t0015g0000 others(26): Show |
199 | 438 | 0.4543 | 24 | c.-48 others(31): Show |
PAPOLB | ENSG00000218823.2 | transcript | ENST00000404991.2 | protein_coding | 1/1 | 25 | chr7 | TogoVar | ||||||
PAPOLG_chr2_60751268_60807086 | 60783500 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0281 | 1 | 328 | 0.0031 | 24 | c.116 others(41): Show |
PAPOLG | ENSG00000115421.13 | transcript | ENST00000238714.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623630 | A | ACTTTCTT others(17): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0102 | 1 | 118 | 0.0085 | 24 | c.199 others(45): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623758 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0102 | 1 | 118 | 0.0085 | 24 | c.199 others(45): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623758 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0024others(2): Show | a0001c0001t0004g0116 a0001c0001t0006g0081 a0001c0001t0024g0037 others(2): Show |
5 | 118 | 0.0424 | 24 | c.199 others(45): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623758 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0073 a0001c0001t0010g0106 |
2 | 118 | 0.0170 | 24 | c.199 others(45): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623758 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 118 | 0.0085 | 24 | c.199 others(45): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706084 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18954.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038 | a0001c0001t0003g0052 a0001c0001t0003g0147 a0001c0001t0038g0315 |
3 | 372 | 0.0081 | 24 | c.28- others(39): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0214 | 1 | 372 | 0.0027 | 24 | c.28- others(39): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0219 | 1 | 372 | 0.0027 | 24 | c.28- others(39): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18973.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0102 a0001c0001t0013g0272 a0001c0001t0013g0282 |
3 | 372 | 0.0081 | 24 | c.28- others(39): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87724851 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp2 others(88): Show |
a0001a0007a0008 | a0001c0001a0007c0008a0008c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0123 a0001c0001t0001g0225 a0001c0001t0001g0230 others(88): Show |
91 | 372 | 0.2446 | 24 | c.881 others(41): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87725884 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02647.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0039others(1): Show | a0001c0001t0005g0346 a0001c0001t0012g0302 a0001c0001t0039g0040 others(1): Show |
4 | 372 | 0.0108 | 24 | c.881 others(41): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300929 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0254 | 1 | 284 | 0.0035 | 24 | c.-27 others(43): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300937 | C | CTCTTTCC others(17): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02148.hp1 NA18948.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0173 a0002c0002t0002g0201 a0002c0002t0007g0200 |
3 | 284 | 0.0106 | 24 | c.-27 others(43): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322751 | A | AGAGGGAG others(17): Show |
intron_variant | MODIFIER | HG01071.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0119 |
2 | 284 | 0.0070 | 24 | c.-27 others(45): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322757 | A | AGAGGGAG others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 284 | 0.0035 | 24 | c.-27 others(45): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR7_chr1_25856484_25880708 | 25878385 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0038 | 1 | 362 | 0.0028 | 24 | c.-30 others(35): Show |
PAQR7 | ENSG00000182749.6 | transcript | ENST00000675840.1 | protein_coding | 2678 | chr1 | TogoVar | |||||||
PAQR7_chr1_25856484_25880708 | 25878385 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0140 | 1 | 362 | 0.0028 | 24 | c.-30 others(35): Show |
PAQR7 | ENSG00000182749.6 | transcript | ENST00000675840.1 | protein_coding | 2678 | chr1 | TogoVar | |||||||
PAQR8_chr6_52357151_52412777 | 52379619 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0183 | 1 | 390 | 0.0026 | 24 | c.-53 others(43): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAQR8_chr6_52357151_52412777 | 52398983 | T | TGGCTATT others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0081 | a0001c0001t0047g0124 a0001c0001t0047g0125 a0001c0001t0081g0130 |
3 | 390 | 0.0077 | 24 | c.-52 others(41): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAQR9_chr3_142949585_142968674 | 142964237 | A | AGTGTGTG others(17): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 446 | 0.0022 | 24 | c.-90 others(33): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 564 | chr3 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 204563217 | G | GTCTGTCT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0001 | 1 | 54 | 0.0185 | 24 | c.120 others(43): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205117918 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0025 | a0010c0025t0022 | a0010c0025t0022g0009 | 1 | 54 | 0.0185 | 24 | c.681 others(39): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205168320 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0028 | 1 | 54 | 0.0185 | 24 | c.162 others(43): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205238888 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03139.hp2 HG03453.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0008 a0002c0002t0001g0027 a0002c0002t0013g0022 |
3 | 54 | 0.0556 | 24 | c.214 others(43): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205238890 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0007 | a0007c0028 | a0007c0028t0003 | a0007c0028t0003g0007 | 1 | 54 | 0.0185 | 24 | c.214 others(43): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205331782 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 NA18522.hp1 |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0003t0003a0003c0005t0001 | a0001c0001t0001g0053 a0001c0003t0003g0047 a0003c0005t0001g0010 |
3 | 54 | 0.0556 | 24 | c.263 others(45): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205607831 | T | TACACCCA others(17): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 54 | 0.0185 | 24 | c.326 others(43): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34129700 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0013 | a0003c0013t0013 | a0003c0013t0013g0097 | 1 | 100 | 0.0100 | 24 | c.354 others(43): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34145221 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0022 | a0001c0001t0012g0054 a0001c0003t0022g0080 |
2 | 100 | 0.0200 | 24 | c.342 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34145221 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03098.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003a0001c0002t0004 | a0001c0001t0004g0019 a0001c0002t0003g0071 a0001c0002t0004g0032 others(1): Show |
4 | 100 | 0.0400 | 24 | c.342 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34145221 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0029 | 1 | 100 | 0.0100 | 24 | c.342 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar |