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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK4_chr19_39120786_39184404 | 39165195 | G | GATGATGA others(14): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0095 | 1 | 368 | 0.0027 | 21 | c.-95 others(38): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9665085 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03453.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0007a0002c0001t0005 | a0001c0002t0007g0009 a0002c0001t0005g0007 |
2 | 208 | 0.0096 | 21 | c.-11 others(40): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9807762 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG02970.hp2 HG04228.hp2 NA20300.hp2 |
a0001a0002 | a0001c0002a0001c0006a0002c0001 | a0001c0002t0007a0001c0006t0003a0002c0001t0001 | a0001c0002t0007g0111 a0001c0006t0003g0147 a0002c0001t0001g0187 |
3 | 208 | 0.0144 | 21 | c.-16 others(42): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PAK6_chr15_40234063_40282487 | 40275280 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 NA18966.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0026a0001c0001t0075a0003c0004t0006 | a0001c0001t0026g0303 a0001c0001t0075g0397 a0003c0004t0006g0183 |
3 | 426 | 0.0070 | 21 | c.187 others(38): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645137 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0174 |
2 | 326 | 0.0061 | 21 | c.-39 others(32): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3828 | chr16 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70529208 | G | GCCCCCCC others(14): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02723.hp2 | a0005 | a0005c0015 | a0005c0015t0014 | a0005c0015t0014g0249 | 1 | 308 | 0.0033 | 21 | c.186 others(32): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759202 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 156 | 0.0064 | 21 | c.196 others(42): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168793366 | C | CATATATA others(14): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 1 | 156 | 0.0064 | 21 | c.196 others(42): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110011012 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0070 | 1 | 222 | 0.0045 | 21 | c.497 others(38): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110098153 | A | AAGAGAGG others(14): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0195 | 1 | 222 | 0.0045 | 21 | c.583 others(40): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652740 | G | GAAAAGAA others(14): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0183 |
2 | 380 | 0.0053 | 21 | c.45+ others(36): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284429 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01934.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0007a0001c0001t0021others(2): Show | a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0121 others(13): Show |
16 | 290 | 0.0552 | 21 | c.367 others(38): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24638322 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01261.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0012a0001c0002t0019others(5): Show | a0001c0002t0007g0314 a0001c0002t0012g0359 a0001c0002t0019g0291 others(5): Show |
8 | 378 | 0.0212 | 21 | c.118 others(38): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAMR1_chr11_35426827_35530616 | 35474324 | C | CAGCCCAG others(14): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 378 | 0.0027 | 21 | c.494 others(36): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 4/10 | chr11 | TogoVar | |||||||
PAM_chr5_102750305_103034716 | 102795189 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 188 | 0.0053 | 21 | c.-37 others(42): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89595833 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0318 | 1 | 366 | 0.0027 | 21 | c.900 others(38): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168559157 | T | TCTAAAAG others(14): Show |
splice_acceptor_variant others(1): Show |
HIGH | NA19067.hp2 | a0003 | a0003c0007 | a0003c0007t0026 | a0003c0007t0026g0248 | 1 | 416 | 0.0024 | 21 | c.937 others(33): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02165.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0100 a0001c0001t0007g0105 a0001c0001t0007g0106 others(2): Show |
5 | 416 | 0.0120 | 21 | c.635 others(36): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02015.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0107 others(1): Show |
4 | 416 | 0.0096 | 21 | c.635 others(36): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168569030 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0330 | 1 | 416 | 0.0024 | 21 | c.29- others(32): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168573416 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 a0001c0001t0005g0059 |
2 | 416 | 0.0048 | 21 | c.29- others(36): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PAPLN_chr14_73232506_73279623 | 73258618 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02155.hp1 |
a0001a0003 | a0001c0004a0003c0002 | a0001c0004t0001a0003c0002t0024 | a0001c0004t0001g0056 a0003c0002t0024g0113 |
2 | 418 | 0.0048 | 21 | c.162 others(38): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPOLA_chr14_96497382_96572116 | 96548341 | T | TAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 310 | 0.0032 | 21 | c.152 others(38): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176498751 | C | CACAAAAA others(14): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0081 | 1 | 118 | 0.0085 | 21 | c.-91 others(42): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87688443 | T | TTTTATTT others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 372 | 0.0027 | 21 | c.28- others(38): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87713312 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 372 | 0.0027 | 21 | c.381 others(33): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69378264 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0244 | 1 | 284 | 0.0035 | 21 | c.52- others(36): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR7_chr1_25856484_25880708 | 25878385 | A | AAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 362 | 0.0028 | 21 | c.-30 others(32): Show |
PAQR7 | ENSG00000182749.6 | transcript | ENST00000675840.1 | protein_coding | 2678 | chr1 | TogoVar | |||||||
PAQR7_chr1_25856484_25880708 | 25878385 | A | AAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0026 | 1 | 362 | 0.0028 | 21 | c.-30 others(32): Show |
PAQR7 | ENSG00000182749.6 | transcript | ENST00000675840.1 | protein_coding | 2678 | chr1 | TogoVar | |||||||
PAQR8_chr6_52357151_52412777 | 52381807 | A | ATGGGCAT others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0182 | 1 | 390 | 0.0026 | 21 | c.-53 others(40): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAQR9_chr3_142949585_142968674 | 142967469 | A | AAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0011 | a0001c0011t0045 | a0001c0011t0045g0000 | 1 | 446 | 0.0022 | 21 | c.-41 others(32): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 3796 | chr3 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205248414 | T | TGGTGGTG others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0009 | a0009c0024 | a0009c0024t0003 | a0009c0024t0003g0014 | 1 | 54 | 0.0185 | 21 | c.218 others(40): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205331782 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02886.hp1 |
a0003a0008a0009 | a0003c0005a0008c0014a0009c0024 | a0003c0005t0001a0008c0014t0011a0009c0024t0003 | a0003c0005t0001g0025 a0008c0014t0011g0023 a0009c0024t0003g0014 |
3 | 54 | 0.0556 | 21 | c.263 others(42): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205422849 | G | GGCTTAGC others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01109.hp1 others(50): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0015others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0002g0005 others(50): Show |
53 | 54 | 0.9815 | 21 | c.274 others(42): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 19/22 | chr2 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34145221 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0017 | 1 | 100 | 0.0100 | 21 | c.342 others(42): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34145221 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0022 | 1 | 100 | 0.0100 | 21 | c.342 others(42): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34308112 | C | CAGGGAAG others(14): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0067 |
2 | 100 | 0.0200 | 21 | c.306 others(40): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 20/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34768354 | T | TAACTCGA others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp2 HG01109.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0079 others(13): Show |
16 | 100 | 0.1600 | 21 | c.120 others(40): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34768371 | G | GGGACAAC others(14): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0004g0019 others(6): Show |
9 | 100 | 0.0900 | 21 | c.120 others(40): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | |||||||
PARG_chr10_49813279_49947027 | 49891623 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 292 | 0.0034 | 21 | c.173 others(40): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
PARK7_chr1_7956711_7990505 | 7990498 | T | TCACCACC others(14): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0185 |
2 | 370 | 0.0054 | 21 | c.*54 others(32): Show |
PARK7 | ENSG00000116288.13 | transcript | ENST00000338639.10 | protein_coding | 4994 | chr1 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183861668 | A | ATTTAAGT others(14): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 358 | 0.0028 | 21 | c.511 others(38): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14501435 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 169 | 0.0059 | 21 | c.148 others(42): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 21/23 | chr16 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143972360 | T | TGGGCACA others(14): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0079 | 1 | 380 | 0.0026 | 21 | c.*51 others(32): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 4797 | chr8 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44066801 | C | CCTCCTCC others(14): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0053a0001c0008t0086 | a0001c0001t0053g0126 a0001c0008t0086g0324 |
2 | 332 | 0.0060 | 21 | c.113 others(40): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44120097 | G | GGGCAGCC others(14): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 332 | 0.0030 | 21 | c.376 others(36): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44139447 | T | TTGTTTGT others(14): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 332 | 0.0030 | 21 | c.693 others(36): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44151029 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02602.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0061 | a0001c0001t0003g0144 a0001c0001t0061g0033 |
2 | 332 | 0.0060 | 21 | c.775 others(36): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151581227 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 221 | 0.0045 | 21 | c.-28 others(40): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61886819 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03195.hp2 NA20129.hp1 |
a0001a0062 | a0001c0059a0062c0063 | a0001c0059t0009a0062c0063t0027 | a0001c0059t0009g0045 a0062c0063t0027g0100 |
2 | 158 | 0.0127 | 21 | c.313 others(40): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 22/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |