view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALM2AKAP2_chr9_109775198_110177512 | 109873442 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0079 | 1 | 222 | 0.0045 | 15 | c.126 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110006324 | C | CTCTTTCT others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02723.hp2 |
a0005a0006 | a0005c0008a0006c0009 | a0005c0008t0006a0006c0009t0014 | a0005c0008t0006g0159a0006c0009t0014g0217 | 2 | 222 | 0.0090 | 15 | c.497 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110006367 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0160 | 1 | 222 | 0.0045 | 15 | c.497 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110011012 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0149 | 1 | 222 | 0.0045 | 15 | c.497 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110011014 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 222 | 0.0045 | 15 | c.497 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110023305 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0048 | 1 | 222 | 0.0045 | 15 | c.582 others(32): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0222 | 2 | 222 | 0.0090 | 15 | c.583 others(30): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652659 | A | AGAAAGGA others(8): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02486.hp2 HG04204.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0348a0001c0002t0001g0014a0001c0002t0001g0024 | 3 | 380 | 0.0079 | 15 | c.45+ others(30): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652694 | G | GGAAAAGA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 HG02015.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0028others(15): Show | 18 | 380 | 0.0474 | 15 | c.45+ others(30): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652694 | G | GGAAAGGA others(8): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 380 | 0.0026 | 15 | c.45+ others(30): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284547 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 290 | 0.0035 | 15 | c.367 others(32): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67300336 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0003g0130a0001c0001t0003g0140a0001c0001t0003g0141others(7): Show | 10 | 290 | 0.0345 | 15 | c.577 others(32): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67326221 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 290 | 0.0035 | 15 | c.185 others(34): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24672196 | C | CTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18953.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0024a0001c0001t0035 | a0001c0001t0015g0246a0001c0001t0024g0240a0001c0001t0035g0107 | 3 | 378 | 0.0079 | 15 | c.111 others(34): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102766926 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01433.hp1 HG01934.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0043a0001c0001t0001g0082a0001c0001t0001g0084others(7): Show | 10 | 188 | 0.0532 | 15 | c.-37 others(36): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102787589 | T | TAAATGCC others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01106.hp1 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0055others(54): Show | 57 | 188 | 0.3032 | 15 | c.-37 others(36): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102795189 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02486.hp2 NA18954.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0002 | a0001c0001t0002g0109a0001c0001t0007g0021a0001c0002t0002g0111 | 3 | 188 | 0.0160 | 15 | c.-37 others(36): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102841445 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 188 | 0.0053 | 15 | c.-37 others(36): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
PAN3_chr13_28133545_28300335 | 28142511 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0121 | 1 | 252 | 0.0040 | 15 | c.430 others(32): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28194466 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0121a0001c0001t0010g0122a0001c0001t0010g0126others(1): Show | 4 | 252 | 0.0159 | 15 | c.691 others(32): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28194466 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0028 | a0001c0001t0010g0124a0001c0001t0028g0125 | 2 | 252 | 0.0079 | 15 | c.691 others(32): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0059 | 1 | 366 | 0.0027 | 15 | c.900 others(32): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0072 | 2 | 366 | 0.0055 | 15 | c.900 others(32): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK2_chr20_3884387_3934887 | 3930280 | A | ACATTCTC others(8): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0005 | a0005c0008 | a0005c0008t0060 | a0005c0008t0060g0146 | 1 | 422 | 0.0024 | 15 | c.*69 others(26): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 394 | chr20 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168569030 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 416 | 0.0024 | 15 | c.29- others(26): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168569030 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18612.hp1 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0253a0001c0001t0001g0320a0001c0001t0001g0325others(1): Show | 4 | 416 | 0.0096 | 15 | c.29- others(26): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168569030 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268a0001c0001t0001g0295 | 2 | 416 | 0.0048 | 15 | c.29- others(26): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168569030 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0047 | 1 | 416 | 0.0024 | 15 | c.29- others(26): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168573416 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01070.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0045others(1): Show | a0001c0001t0005g0020a0001c0001t0005g0052a0001c0001t0005g0053others(10): Show | 14 | 416 | 0.0337 | 15 | c.29- others(30): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168578648 | C | CGGTTCGC others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 416 | 0.0024 | 15 | c.28+ others(28): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANX1_chr11_94123841_94186968 | 94174126 | T | TCATTGGA others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0004 | a0004c0004t0024 | a0004c0004t0024g0081 | 1 | 408 | 0.0025 | 15 | c.322 others(32): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAOX_chr10_133374262_133396694 | 133374752 | T | TTTTATTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 346 | 0.0029 | 15 | c.-45 others(26): Show |
PAOX | ENSG00000148832.16 | transcript | ENST00000278060.10 | protein_coding | 4509 | chr10 | TogoVar | |||||||
PAPLN_chr14_73232506_73279623 | 73249722 | T | TGGTAAAT others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18984.hp2 NA18994.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0214a0002c0001t0001g0215a0002c0001t0001g0216 | 3 | 418 | 0.0072 | 15 | c.335 others(30): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPLN_chr14_73232506_73279623 | 73258618 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02486.hp2 HG02622.hp2 others(2): Show |
a0003a0012a0023 | a0003c0061a0012c0015a0023c0028 | a0003c0061t0006a0012c0015t0001a0023c0028t0001 | a0003c0061t0006g0104a0012c0015t0001g0099a0012c0015t0001g0101others(2): Show | 5 | 418 | 0.0120 | 15 | c.162 others(32): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPOLA_chr14_96497382_96572116 | 96507280 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0124a0001c0001t0001g0125others(7): Show | 11 | 310 | 0.0355 | 15 | c.8+4 others(28): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPOLG_chr2_60751268_60807086 | 60778312 | A | AATTTTAT others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0204 | 1 | 328 | 0.0031 | 15 | c.695 others(32): Show |
PAPOLG | ENSG00000115421.13 | transcript | ENST00000238714.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PAPOLG_chr2_60751268_60807086 | 60783500 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0009 | a0001c0009t0027 | a0001c0009t0027g0292 | 1 | 328 | 0.0031 | 15 | c.116 others(32): Show |
PAPOLG | ENSG00000115421.13 | transcript | ENST00000238714.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PAPOLG_chr2_60751268_60807086 | 60799604 | G | GTTTGTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01106.hp2 HG01123.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0005a0001c0001t0006a0001c0001t0020others(3): Show | a0001c0001t0005g0005a0001c0001t0005g0035a0001c0001t0005g0036others(21): Show | 24 | 328 | 0.0732 | 15 | c.*24 others(26): Show |
PAPOLG | ENSG00000115421.13 | transcript | ENST00000238714.8 | protein_coding | 22/22 | 2482 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176462339 | T | TTTTCCTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 HG02723.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0029a0001c0002t0002g0040 | 2 | 118 | 0.0170 | 15 | c.-19 others(26): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 835 | chr1 | TogoVar | |||||||
PAPPA_chr9_116148791_116407321 | 116169310 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00735.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0045others(2): Show | a0001c0001t0003a0001c0002t0008a0001c0002t0064others(5): Show | a0001c0001t0003g0050a0001c0002t0008g0227a0001c0002t0064g0225others(5): Show | 8 | 234 | 0.0342 | 15 | c.415 others(34): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116261887 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02922.hp1 HG03041.hp2 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0047a0002c0004others(2): Show | a0001c0001t0003a0001c0047t0002a0002c0004t0018others(2): Show | a0001c0001t0003g0118a0001c0047t0002g0015a0002c0004t0018g0204others(2): Show | 5 | 234 | 0.0214 | 15 | c.273 others(34): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116314060 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18979.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0157a0002c0003t0002g0058 | 2 | 234 | 0.0086 | 15 | c.314 others(36): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116384270 | T | TTAATAAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01168.hp2 others(11): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0005a0001c0002t0007a0001c0002t0039others(10): Show | a0001c0001t0005g0123a0001c0002t0007g0063a0001c0002t0039g0176others(11): Show | 14 | 234 | 0.0598 | 15 | c.477 others(34): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPSS1_chr4_107608666_107725234 | 107621608 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01433.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0002others(2): Show | a0001c0001t0003g0270a0001c0002t0001g0170a0001c0003t0002g0121others(2): Show | 5 | 276 | 0.0181 | 15 | c.173 others(34): Show |
PAPSS1 | ENSG00000138801.9 | transcript | ENST00000265174.5 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
PAPSS2_chr10_87654878_87752705 | 87713312 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0197a0001c0001t0008g0359 | 2 | 372 | 0.0054 | 15 | c.381 others(28): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322811 | G | GGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0133 | 1 | 284 | 0.0035 | 15 | c.-27 others(36): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322832 | A | AGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 284 | 0.0035 | 15 | c.-27 others(36): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR8_chr6_52357151_52412777 | 52362021 | C | CGCGGGCT others(8): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0131 | 1 | 390 | 0.0026 | 15 | c.-28 others(24): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 129 | chr6 | TogoVar | |||||||
PAQR8_chr6_52357151_52412777 | 52364083 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01243.hp2 HG02145.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0033a0001c0002t0036a0001c0003t0012 | a0001c0001t0033g0205a0001c0002t0036g0311a0001c0003t0012g0204 | 3 | 390 | 0.0077 | 15 | c.-53 others(32): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAQR8_chr6_52357151_52412777 | 52379619 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0042 | 1 | 390 | 0.0026 | 15 | c.-53 others(34): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |