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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRAG1_chr8_8312736_8391439 | 8367458 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0008 | a0008c0045 | a0008c0045t0002 | a0008c0045t0002g0137 | 1 | 336 | 0.0030 | -24 | c.216 others(43): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
PRAMEF13_chr1_13191188_13206409 | 13203334 | CAAGCAAG others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0027 | 1 | 53 | 0.0189 | -24 | c.-20 others(35): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1926 | chr1 | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13337429 | CATAAATA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 256 | 0.0039 | -24 | c.*50 others(35): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 4462 | chr1 | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13349112 | AGAAAGAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 256 | 0.0039 | -24 | c.-21 others(35): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 1979 | chr1 | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13349239 | AGAAAGAA others(17): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 256 | 0.0039 | -24 | c.-22 others(35): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 2106 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789341 | TTTCCTTC others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 382 | 0.0026 | -24 | c.-21 others(35): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 2055 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789386 | TTCCTTCC others(17): Show |
T | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 | 1 | 382 | 0.0026 | -24 | c.-21 others(35): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 2010 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789393 | CTTCCTTC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02148.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 382 | 0.0079 | -24 | c.-21 others(35): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 2003 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789410 | CTCTTTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(127): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0016a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0028others(25): Show | 130 | 382 | 0.3403 | -24 | c.-20 others(35): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1986 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789439 | TCTTTCTT others(17): Show |
T | upstream_gene_variant | MODIFIER | NA20905.hp1 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0002 | 1 | 382 | 0.0026 | -24 | c.-20 others(35): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1957 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789447 | TCTTTCTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -24 | c.-20 others(35): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1949 | chr1 | TogoVar | ||||||
PRAMEF7_chr1_12911610_12925751 | 12915475 | CTCTCTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02056.hp1 HG02258.hp1 others(4): Show |
a0001a0012 | a0001c0001a0012c0014 | a0001c0001t0001a0012c0014t0001 | a0001c0001t0001g0001a0012c0014t0001g0027 | 7 | 254 | 0.0276 | -24 | c.-12 others(35): Show |
PRAMEF7 | ENSG00000204510.6 | transcript | ENST00000697200.1 | protein_coding | 1134 | chr1 | TogoVar | ||||||
PRAMEF8_chr1_13276304_13290137 | 13286218 | TGAAAGAA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0039 | 1 | 332 | 0.0030 | -24 | c.-11 others(35): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 1082 | chr1 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156787446 | GATTGATA others(17): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00735.hp2 others(41): Show |
a0001a0005a0008 | a0001c0001a0005c0005a0008c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(40): Show | 44 | 350 | 0.1257 | -24 | c.108 others(41): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRCC_chr1_156762535_156805815 | 156787449 | TGATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02523.hp1 NA18941.hp1 NA18942.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143a0002c0002t0001g0144a0002c0002t0001g0149others(1): Show | 4 | 350 | 0.0114 | -24 | c.108 others(41): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156787450 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0139others(43): Show | 46 | 350 | 0.1314 | -24 | c.108 others(41): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM10_chr11_129894711_130007835 | 129963377 | AAAAAGAG others(17): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG02056.hp1 HG02155.hp2 others(4): Show |
a0003 | a0003c0002a0003c0006a0003c0038others(1): Show | a0003c0002t0001a0003c0002t0004a0003c0006t0002others(2): Show | a0003c0002t0001g0022a0003c0002t0001g0065a0003c0002t0001g0102others(4): Show | 7 | 326 | 0.0215 | -24 | c.-11 others(43): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
PRDM11_chr11_45141639_45240109 | 45199821 | TGCCTGCC others(17): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0052a0001c0001t0011g0266a0001c0001t0011g0268others(1): Show | 4 | 308 | 0.0130 | -24 | c.487 others(41): Show |
PRDM11 | ENSG00000019485.14 | transcript | ENST00000683152.1 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3165264 | GGGATGCA others(17): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01255.hp2 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0007others(3): Show | a0001c0001t0008a0001c0001t0013a0001c0001t0021others(8): Show | a0001c0001t0008g0064a0001c0001t0013g0002a0001c0001t0021g0088others(9): Show | 12 | 210 | 0.0571 | -24 | c.38- others(41): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3165312 | GGGTTGCA others(17): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0064a0001c0001t0021g0088a0001c0001t0021g0089 | 3 | 210 | 0.0143 | -24 | c.38- others(41): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3165394 | AGGGCTCA others(17): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG02970.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0045a0001c0001t0076others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0045g0024others(2): Show | 5 | 210 | 0.0238 | -24 | c.38- others(41): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3165884 | CACAGGGA others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02970.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0007a0002c0003t0004others(1): Show | a0001c0001t0001g0029a0001c0004t0007g0071a0002c0003t0004g0048others(1): Show | 4 | 210 | 0.0191 | -24 | c.38- others(41): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3181218 | GCAGTCTT others(17): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0120 | 1 | 210 | 0.0048 | -24 | c.38- others(39): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3190199 | GTTACTTC others(17): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01109.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0011a0001c0001t0014a0001c0001t0042others(13): Show | a0001c0001t0011g0022a0001c0001t0014g0069a0001c0001t0042g0124others(13): Show | 16 | 210 | 0.0762 | -24 | c.387 others(41): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3200713 | CGTGGCCC others(17): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG03669.hp2 HG03710.hp1 others(3): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0053a0001c0001t0076a0001c0002t0003others(3): Show | a0001c0001t0053g0154a0001c0001t0076g0170a0001c0002t0003g0120others(3): Show | 6 | 210 | 0.0286 | -24 | c.387 others(43): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3316615 | GAAACAGT others(17): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0154 | 1 | 210 | 0.0048 | -24 | c.439 others(43): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM6_chr5_123084241_123199266 | 123089116 | TCTCTCTC others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01928.hp2 HG02071.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007a0003c0003t0001g0121 | 2 | 312 | 0.0064 | -24 | c.-41 others(33): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 124 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089118 | TCTCTCTC others(17): Show |
T | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0099 | 1 | 312 | 0.0032 | -24 | c.-41 others(33): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 122 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089122 | TCTCTCAC others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18966.hp1 NA19009.hp1 |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0054a0010c0015t0001 | a0001c0001t0054g0032a0010c0015t0001g0045 | 2 | 312 | 0.0064 | -24 | c.-41 others(33): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 118 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089124 | TCTCACAC others(17): Show |
T | upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 312 | 0.0032 | -24 | c.-41 others(33): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 116 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089126 | TCACACAC others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01346.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0013 | a0001c0001t0003a0001c0001t0031a0001c0001t0080others(3): Show | a0001c0001t0003g0004a0001c0001t0003g0077a0001c0001t0031g0080others(4): Show | 8 | 312 | 0.0256 | -24 | c.-40 others(33): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 114 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089168 | ACACACAC others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0268 | 1 | 312 | 0.0032 | -24 | c.-36 others(33): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 72 | chr5 | TogoVar | ||||||
PRELID2_chr5_145751344_145840342 | 145781625 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01175.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0120a0001c0001t0001g0187a0001c0001t0001g0203others(18): Show | 21 | 258 | 0.0814 | -24 | c.474 others(43): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
PREP_chr6_105268218_105408082 | 105374632 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01081.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0074a0001c0001t0001g0088a0001c0001t0001g0101others(12): Show | 15 | 212 | 0.0708 | -24 | c.386 others(41): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48641836 | GAGAGAGG others(17): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0042a0001c0005t0004g0046 | 2 | 268 | 0.0075 | -24 | c.377 others(41): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 29/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48641840 | GAGGAAGG others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02683.hp2 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0032 | a0001c0001t0002a0002c0002t0003a0002c0032t0003 | a0001c0001t0002g0244a0002c0002t0003g0020a0002c0002t0003g0022others(4): Show | 7 | 268 | 0.0261 | -24 | c.377 others(41): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 29/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48746941 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(38): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0020others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(16): Show | a0001c0001t0001g0008a0001c0001t0002g0041a0001c0001t0002g0043others(38): Show | 41 | 268 | 0.1530 | -24 | c.291 others(39): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 2/39 | chr20 | TogoVar | ||||||
PREX2_chr8_67947046_68242032 | 68098927 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0038 | a0001c0038t0003 | a0001c0038t0003g0022 | 1 | 190 | 0.0053 | -24 | c.255 others(41): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 22/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PREX2_chr8_67947046_68242032 | 68098938 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp1 others(23): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0011a0001c0017others(11): Show | a0001c0004t0004a0001c0011t0002a0001c0011t0003others(19): Show | a0001c0004t0004g0127a0001c0004t0004g0152a0001c0011t0002g0123others(23): Show | 26 | 190 | 0.1368 | -24 | c.255 others(41): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 22/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PRG3_chr11_57371769_57386150 | 57374426 | CAAAAAAA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | -24 | c.*24 others(35): Show |
PRG3 | ENSG00000156575.2 | transcript | ENST00000287143.2 | protein_coding | 2342 | chr11 | TogoVar | ||||||
PRG4_chr1_186291279_186319567 | 186307135 | GGAGCCTG others(17): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(53): Show |
a0003a0019a0023others(1): Show | a0003c0003a0003c0024a0019c0020others(2): Show | a0003c0003t0003a0003c0024t0003a0019c0020t0002others(2): Show | a0003c0003t0003g0010a0003c0003t0003g0017a0003c0003t0003g0018others(28): Show | 56 | 428 | 0.1308 | -24 | c.143 others(33): Show |
p.Thr others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 1476/5049 | 1431/4215 | 477/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
PRG4_chr1_186291279_186319567 | 186307744 | CACCCCTA others(17): Show |
C | conservative_inframe_deletion | MODERATE | HG01175.hp2 HG02451.hp1 HG03486.hp1 |
a0014 | a0014c0015a0014c0028 | a0014c0015t0003a0014c0028t0001 | a0014c0015t0003g0159a0014c0015t0003g0160a0014c0028t0001g0015 | 3 | 428 | 0.0070 | -24 | c.208 others(33): Show |
p.Pro others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 2131/5049 | 2086/4215 | 696/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
PRG4_chr1_186291279_186319567 | 186307988 | ACTGCTCC others(17): Show |
A | disruptive_inframe_deletion | MODERATE | HG01928.hp2 HG01975.hp1 HG02300.hp2 |
a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0086a0013c0012t0001g0087a0013c0012t0001g0094 | 3 | 428 | 0.0070 | -24 | c.231 others(33): Show |
p.Glu others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 2360/5049 | 2315/4215 | 772/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
PRICKLE1_chr12_42451757_42594746 | 42514887 | CTCTATCT others(17): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 HG01123.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0081a0001c0001t0001g0161a0001c0001t0001g0164others(36): Show | 39 | 300 | 0.1300 | -24 | c.-48 others(43): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRICKLE1_chr12_42451757_42594746 | 42527916 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02451.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0029 | a0001c0001t0009g0206a0001c0002t0029g0067 | 2 | 300 | 0.0067 | -24 | c.-48 others(43): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRICKLE1_chr12_42451757_42594746 | 42527949 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00642.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0010a0001c0001t0001g0050a0001c0001t0001g0051others(49): Show | 52 | 300 | 0.1733 | -24 | c.-48 others(43): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRICKLE1_chr12_42451757_42594746 | 42560766 | TCTCACAC others(17): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01106.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0022others(9): Show | a0001c0001t0001g0064a0001c0001t0001g0221a0001c0001t0001g0223others(25): Show | 28 | 300 | 0.0933 | -24 | c.-49 others(43): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRICKLE1_chr12_42451757_42594746 | 42560768 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0033a0001c0003t0004g0032 | 2 | 300 | 0.0067 | -24 | c.-49 others(43): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRICKLE2_chr3_64087236_64230466 | 64129158 | TTAAAAAT others(17): Show |
T | intron_variant | MODIFIER | HG02083.hp2 NA18972.hp2 NA18999.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0165a0001c0001t0002g0166a0001c0001t0004g0314others(2): Show | 5 | 340 | 0.0147 | -24 | c.166 others(45): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 7/7 | chr3 | TogoVar | ||||||
PRIM1_chr12_56726580_56757323 | 56746653 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA18981.hp2 NA19009.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0038a0002c0003t0001g0254a0002c0003t0001g0255 | 4 | 336 | 0.0119 | -24 | c.442 others(39): Show |
PRIM1 | ENSG00000198056.16 | transcript | ENST00000338193.11 | protein_coding | 4/12 | chr12 | TogoVar |