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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPACA5B_chrX_48125626_48137620 | 48125839 | CA | C | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-48 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4786 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48126006 | TA | T | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-46 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4619 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48126064 | TA | T | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-46 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4561 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48126102 | TC | T | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-45 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48126218 | AG | A | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-44 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4407 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48126561 | AT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 312 | 0.0064 | -1 | c.-41 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4064 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48126894 | CA | C | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 312 | 0.0032 | -1 | c.-37 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 3731 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48128252 | TG | T | upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 312 | 0.0032 | -1 | c.-24 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2373 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48128882 | AG | A | upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-18 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1743 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48128910 | CA | C | upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-17 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1715 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48128938 | AG | A | upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-17 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1687 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48129023 | CA | C | upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.-16 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1602 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48129065 | GA | G | upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 312 | 0.0032 | -1 | c.-16 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1560 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48129326 | GA | G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(309): Show |
a0000a0001 | a0000c0002a0001c0001a0001c0003 | a0000c0002t0001a0001c0001t0001a0001c0001t0002others(1): Show | a0000c0002t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0002 others(14): Show |
312 | 312 | 1.0000 | -1 | c.-13 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1299 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48130014 | AG | A | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 312 | 0.0032 | -1 | c.-67 others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 611 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48130665 | TG | T | 5_prime_UTR_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 312 | 0.0032 | -1 | c.-20 others(4): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1/4 | 20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SPACA5B_chrX_48125626_48137620 | 48131259 | AG | A | frameshift_variant others(1): Show |
HIGH | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 312 | 0.0032 | -1 | c.147 others(4): Show |
p.Trp others(4): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2/4 | 209/633 | 147/480 | 49/159 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SPACA5B_chrX_48125626_48137620 | 48132511 | TC | T | frameshift_variant | HIGH | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.464 others(4): Show |
p.Pro others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4/4 | 526/633 | 464/480 | 155/159 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SPACA5B_chrX_48125626_48137620 | 48132672 | TC | T | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*14 others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 53 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48132740 | AG | A | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*21 others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 121 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48132836 | TA | T | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*30 others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 217 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48133016 | TC | T | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*48 others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 397 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48133066 | TC | T | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*53 others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 447 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48133128 | GC | G | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*60 others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 509 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48133322 | CA | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
3 | 312 | 0.0096 | -1 | c.*79 others(5): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 703 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48133783 | GA | G | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*12 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1164 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48133971 | TC | T | downstream_gene_variant | MODIFIER | NA19001.hp2 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*14 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1352 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48133999 | CT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01069.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
51 | 312 | 0.1635 | -1 | c.*14 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1380 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48134466 | AT | A | downstream_gene_variant | MODIFIER | HG02896.hp1 NA19001.hp2 |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0001a0001c0001t0001 | a0000c0002t0001g0001 a0001c0001t0001g0006 |
2 | 312 | 0.0064 | -1 | c.*19 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 1847 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48134889 | TA | T | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*23 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2270 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135040 | CG | C | downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*25 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2421 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135086 | AG | A | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*25 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2467 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135137 | TC | T | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*26 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2518 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135184 | CA | C | downstream_gene_variant | MODIFIER | HG03540.hp2 NA18948.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 |
3 | 312 | 0.0096 | -1 | c.*26 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2565 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135510 | AT | A | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*29 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2891 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135524 | AG | A | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*29 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2905 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135801 | CA | C | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*32 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 3182 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135852 | GA | G | downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 312 | 0.0032 | -1 | c.*33 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 3233 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48136102 | TC | T | downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*35 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 3483 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48136370 | GA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(308): Show |
a0000a0001 | a0000c0002a0001c0001a0001c0003 | a0000c0002t0001a0001c0001t0001a0001c0001t0002others(1): Show | a0000c0002t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0002 others(14): Show |
311 | 312 | 0.9968 | -1 | c.*38 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 3751 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48136380 | GA | G | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*38 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 3761 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48136572 | CT | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG04204.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
11 | 312 | 0.0353 | -1 | c.*40 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 3953 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48136828 | GC | G | downstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 312 | 0.0032 | -1 | c.*43 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4209 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48137147 | TA | T | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*46 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4528 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48137245 | AG | A | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -1 | c.*47 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4626 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48137378 | AC | A | downstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 312 | 0.0032 | -1 | c.*48 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4759 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48137403 | TC | T | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*48 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4784 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48137423 | GA | G | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | -1 | c.*48 others(6): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 4804 | chrX | TogoVar | |||||||
SPACA5_chrX_48001988_48014733 | 48004037 | GC | G | upstream_gene_variant | MODIFIER | HG01993.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 292 | 0.0069 | -1 | c.-37 others(6): Show |
SPACA5 | ENSG00000171489.11 | transcript | ENST00000376940.4 | protein_coding | 2950 | chrX | TogoVar | |||||||
SPACA5_chrX_48001988_48014733 | 48004546 | CG | C | upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 292 | 0.0034 | -1 | c.-32 others(6): Show |
SPACA5 | ENSG00000171489.11 | transcript | ENST00000376940.4 | protein_coding | 2441 | chrX | TogoVar |