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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK2_chr3_196734857_196837647 | 196833466 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 NA18970.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039a0001c0001t0001g0115a0001c0001t0002g0094 | 3 | 178 | 0.0169 | 27 | c.*50 others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 820 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196833468 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0139 | 1 | 178 | 0.0056 | 27 | c.*50 others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 822 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196834252 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0162 | 1 | 178 | 0.0056 | 27 | c.*58 others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1606 | chr3 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9802916 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0001 | a0002c0001t0023 | a0002c0001t0023g0041 | 1 | 208 | 0.0048 | 27 | c.-16 others(48): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40255298 | T | TGGGGATT others(20): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 426 | 0.0024 | 27 | c.-6+ others(42): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168709633 | A | AGGGAGGA others(20): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01175.hp1 NA18964.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0002t0003a0002c0003t0002 | a0001c0001t0008g0064a0001c0002t0003g0018a0002c0003t0002g0151 | 3 | 156 | 0.0192 | 27 | c.162 others(44): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168709633 | A | AGGGAGGG others(20): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18522.hp1 |
a0002a0007 | a0002c0007a0007c0023 | a0002c0007t0014a0007c0023t0001 | a0002c0007t0014g0030a0007c0023t0001g0056 | 2 | 156 | 0.0128 | 27 | c.162 others(44): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110010441 | A | ATATACAT others(20): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18950.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0002 | a0001c0001t0006g0163a0002c0004t0002g0073 | 2 | 222 | 0.0090 | 27 | c.497 others(44): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 222 | 0.0045 | 27 | c.583 others(42): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02080.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0016a0001c0001t0001g0086a0001c0001t0009g0079 | 3 | 222 | 0.0135 | 27 | c.583 others(42): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24638322 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19075.hp1 NA19078.hp1 NA19083.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0293a0001c0002t0017g0294a0001c0002t0017g0295others(1): Show | 4 | 378 | 0.0106 | 27 | c.118 others(44): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102766926 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004a0001c0002t0002g0030 | 2 | 188 | 0.0106 | 27 | c.-37 others(48): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAN3_chr13_28133545_28300335 | 28257701 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03516.hp1 NA19043.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0015a0001c0001t0029a0003c0006t0015 | a0001c0001t0015g0250a0001c0001t0029g0249a0003c0006t0015g0251 | 3 | 252 | 0.0119 | 27 | c.124 others(46): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87713312 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0001 | 1 | 372 | 0.0027 | 27 | c.381 others(40): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322757 | A | AGAAGAGG others(20): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0108 | 2 | 284 | 0.0070 | 27 | c.-27 others(48): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322811 | G | GGAAGAAG others(20): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 284 | 0.0035 | 27 | c.-27 others(48): 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(20): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0071 | 2 | 284 | 0.0070 | 27 | c.-27 others(48): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69378264 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0245 | 1 | 284 | 0.0035 | 27 | c.52- others(42): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205057377 | C | CATATACA others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0045 | 1 | 54 | 0.0185 | 27 | c.504 others(44): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205248380 | T | TTGGTGGT others(20): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0026 | 1 | 54 | 0.0185 | 27 | c.218 others(46): 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(20): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0035 | 1 | 54 | 0.0185 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205380347 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01884.hp1 others(6): Show |
a0001a0002a0003 | a0001c0008a0001c0016a0001c0021others(4): Show | a0001c0008t0004a0001c0016t0002a0001c0021t0001others(6): Show | a0001c0008t0004g0028a0001c0016t0002g0037a0001c0021t0001g0012others(6): Show | 9 | 54 | 0.1667 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205380381 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0008 | a0008c0007 | a0008c0007t0005 | a0008c0007t0005g0040 | 1 | 54 | 0.0185 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205380408 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03195.hp1 |
a0002a0006a0010 | a0002c0001a0006c0014a0010c0027 | a0002c0001t0004a0006c0014t0001a0010c0027t0015 | a0002c0001t0004g0017a0006c0014t0001g0011a0010c0027t0015g0003 | 3 | 54 | 0.0556 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205381175 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0016 | 1 | 54 | 0.0185 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3_chr10_34104561_34820296 | 34145221 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 100 | 0.0100 | 27 | c.342 others(48): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34227854 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 100 | 0.0100 | 27 | c.341 others(48): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605524 | C | CTATATAT others(20): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01358.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0001g0066a0001c0001t0001g0074a0001c0001t0001g0079others(6): Show | 9 | 100 | 0.0900 | 27 | c.223 others(46): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605524 | C | CTATATAT others(20): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 100 | 0.0100 | 27 | c.223 others(46): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARN_chr16_14430701_14635260 | 14501435 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03710.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0041a0001c0001t0002g0111a0001c0001t0004g0062others(1): Show | 4 | 169 | 0.0237 | 27 | c.148 others(48): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 21/23 | chr16 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981971 | T | TGATGCTG others(20): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 380 | 0.0026 | 27 | c.255 others(44): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PARP14_chr3_122675839_122735840 | 122677565 | A | AAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0330 | 1 | 366 | 0.0027 | 27 | c.-33 others(38): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3273 | chr3 | TogoVar | ||||||
PARP15_chr3_122572650_122644047 | 122601036 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02647.hp1 NA18966.hp2 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0016a0004c0004t0002others(2): Show | a0001c0001t0001g0115a0001c0001t0016g0139a0004c0004t0002g0156others(2): Show | 5 | 356 | 0.0140 | 27 | c.187 others(44): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01069.hp2 others(30): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0150a0001c0001t0002g0141a0001c0001t0002g0145others(30): Show | 33 | 332 | 0.0994 | 27 | c.113 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02886.hp2 others(10): Show |
a0001a0005a0010 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(9): Show | a0001c0001t0001g0010a0001c0001t0010g0107a0001c0001t0010g0137others(10): Show | 13 | 332 | 0.0392 | 27 | c.113 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44066795 | C | CCTCCTCC others(20): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0005 | a0001c0005t0067 | a0001c0005t0067g0084 | 1 | 332 | 0.0030 | 27 | c.113 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44066801 | C | CCTCCTCC others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(6): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0002t0003others(4): Show | a0001c0001t0004g0226a0001c0001t0004g0233a0001c0001t0011g0178others(6): Show | 9 | 332 | 0.0271 | 27 | c.113 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61886819 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG02976.hp1 others(3): Show |
a0001a0006a0007others(2): Show | a0001c0021a0001c0092a0006c0040others(3): Show | a0001c0021t0001a0001c0092t0006a0006c0040t0023others(3): Show | a0001c0021t0001g0113a0001c0092t0006g0158a0006c0040t0023g0123others(3): Show | 6 | 158 | 0.0380 | 27 | c.313 others(46): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 22/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62144769 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0047 | a0047c0108 | a0047c0108t0001 | a0047c0108t0001g0132 | 1 | 158 | 0.0063 | 27 | c.527 others(46): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62144771 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02523.hp2 HG03704.hp1 others(1): Show |
a0001a0004a0024 | a0001c0008a0004c0091a0024c0043others(1): Show | a0001c0008t0001a0004c0091t0001a0024c0043t0030others(1): Show | a0001c0008t0001g0067a0004c0091t0001g0057a0024c0043t0030g0083others(1): Show | 4 | 158 | 0.0253 | 27 | c.527 others(46): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59652064 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 276 | 0.0036 | 27 | c.142 others(44): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 11/18 | chr11 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721644 | T | TGTATTAC others(20): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016a0001c0002t0001g0016a0001c0002t0001g0043others(1): Show | 5 | 400 | 0.0125 | 27 | c.*70 others(38): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3164 | chr20 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36984435 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0263 | 1 | 274 | 0.0037 | 27 | c.605 others(46): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
PAX6_chr11_31784026_31816322 | 31812879 | T | TGGCCGCG others(20): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 376 | 0.0027 | 27 | c.-21 others(38): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 1558 | chr11 | TogoVar | ||||||
PBLD_chr10_68277660_68337928 | 68319111 | G | GAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0325 | 1 | 364 | 0.0028 | 27 | c.-59 others(46): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52542619 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 300 | 0.0033 | 27 | c.*54 others(38): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 2747 | chr3 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52636757 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0199 | 1 | 300 | 0.0033 | 27 | c.108 others(46): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125870105 | T | TATCTCAG others(20): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0198 | 2 | 294 | 0.0068 | 27 | c.275 others(46): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45646053 | T | TCTCTCTC others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0224 | 1 | 292 | 0.0034 | 27 | c.-27 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909791 | C | CCCCCCCC others(20): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01099.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0123a0001c0001t0001g0126a0001c0001t0001g0138others(23): Show | 26 | 292 | 0.0890 | 27 | c.471 others(42): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |