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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
XPA_chr9_97669909_97702340 | 97689784 | T | TTA | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG01099.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0009a0001c0001t0003g0046others(3): Show | 32 | 414 | 0.0773 | 2 | c.284 others(17): Show |
XPA | ENSG00000136936.11 | transcript | ENST00000375128.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
XPA_chr9_97669909_97702340 | 97691886 | A | AAT | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00733.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0035others(10): Show | 28 | 414 | 0.0676 | 2 | c.283 others(19): Show |
XPA | ENSG00000136936.11 | transcript | ENST00000375128.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
XPC_chr3_14140147_14183601 | 14143724 | A | ATT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00735.hp1 others(58): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0006a0002c0018others(4): Show | a0001c0003t0003a0001c0006t0001a0002c0018t0003others(4): Show | a0001c0003t0003g0003a0001c0003t0003g0009a0001c0003t0003g0010others(29): Show | 61 | 374 | 0.1631 | 2 | c.*22 others(13): Show |
XPC | ENSG00000154767.15 | transcript | ENST00000285021.12 | protein_coding | 1422 | chr3 | TogoVar | ||||||
XPC_chr3_14140147_14183601 | 14145107 | T | TAA | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02109.hp1 others(5): Show |
a0001a0003 | a0001c0003a0003c0002 | a0001c0003t0003a0003c0002t0002 | a0001c0003t0003g0015a0003c0002t0002g0011a0003c0002t0002g0107others(1): Show | 8 | 374 | 0.0214 | 2 | c.*83 others(11): Show |
XPC | ENSG00000154767.15 | transcript | ENST00000285021.12 | protein_coding | 39 | chr3 | TogoVar | ||||||
XPC_chr3_14140147_14183601 | 14180821 | C | CTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01109.hp1 others(6): Show |
a0002a0003 | a0002c0001a0003c0002 | a0002c0001t0001a0002c0001t0002a0003c0002t0002 | a0002c0001t0001g0018a0002c0001t0001g0154a0002c0001t0002g0145others(5): Show | 9 | 374 | 0.0241 | 2 | c.-22 others(13): Show |
XPC | ENSG00000154767.15 | transcript | ENST00000285021.12 | protein_coding | 2221 | chr3 | TogoVar | ||||||
XPNPEP1_chr10_109859766_109928511 | 109890550 | T | TTG | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp2 HG01496.hp1 others(29): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0021others(25): Show | 32 | 344 | 0.0930 | 2 | c.415 others(19): Show |
XPNPEP1 | ENSG00000108039.18 | transcript | ENST00000502935.6 | protein_coding | 5/20 | chr10 | TogoVar | ||||||
XPNPEP1_chr10_109859766_109928511 | 109896433 | C | CTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(24): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0001 | a0001c0001t0001g0022a0001c0001t0001g0065a0001c0001t0001g0092others(23): Show | 27 | 344 | 0.0785 | 2 | c.247 others(19): Show |
XPNPEP1 | ENSG00000108039.18 | transcript | ENST00000502935.6 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
XPNPEP1_chr10_109859766_109928511 | 109903860 | T | TTC | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0194a0001c0001t0001g0195others(6): Show | 10 | 344 | 0.0291 | 2 | c.246 others(19): Show |
XPNPEP1 | ENSG00000108039.18 | transcript | ENST00000502935.6 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
XPNPEP1_chr10_109859766_109928511 | 109914797 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(108): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0017others(93): Show | 111 | 344 | 0.3227 | 2 | c.121 others(17): Show |
XPNPEP1 | ENSG00000108039.18 | transcript | ENST00000502935.6 | protein_coding | 2/20 | chr10 | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129734363 | C | CAA | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02258.hp1 HG02717.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0056a0001c0001t0003g0114a0001c0001t0007g0284others(7): Show | 10 | 310 | 0.0323 | 2 | c.-48 others(13): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 4615 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129734845 | T | TAC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0086a0001c0001t0001g0115a0001c0001t0001g0143others(49): Show | 52 | 310 | 0.1677 | 2 | c.-43 others(13): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 4133 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129737721 | A | AGG | upstream_gene_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.-14 others(13): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 1257 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129738884 | G | GGC | upstream_gene_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.-33 others(11): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 94 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129739180 | C | CAT | 5_prime_UTR_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.-34 others(9): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 1/21 | 33 | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129740628 | C | CAA | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0185 | 1 | 310 | 0.0032 | 2 | c.49+ others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129740901 | C | CCA | intron_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.50- others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 1/20 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129740908 | C | CCT | intron_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.50- others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 1/20 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129740956 | A | AGG | intron_variant | MODIFIER | HG00597.hp2 HG02074.hp1 HG02965.hp1 others(7): Show |
a0001a0015a0028 | a0001c0001a0001c0002a0015c0012others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0176a0001c0001t0003g0082a0001c0001t0004g0080others(7): Show | 10 | 310 | 0.0323 | 2 | c.50- others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129740965 | G | GGC | intron_variant | MODIFIER | NA18972.hp2 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0089 | 1 | 310 | 0.0032 | 2 | c.50- others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129741172 | T | TGG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(119): Show |
a0001a0003a0010others(9): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0053a0001c0001t0001g0062a0001c0001t0001g0086others(119): Show | 122 | 310 | 0.3936 | 2 | c.50- others(15): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129742128 | A | AAG | frameshift_variant | HIGH | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.71_ others(7): Show |
p.Pro others(4): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 2/21 | 308/3311 | 73/2025 | 25/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
XPNPEP2_chrX_129733979_129774536 | 129742195 | G | GCC | intron_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.123 others(15): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129742273 | C | CCG | intron_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.123 others(15): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129742333 | G | GGC | intron_variant | MODIFIER | NA19075.hp1 | a0026 | a0026c0023 | a0026c0023t0003 | a0026c0023t0003g0001 | 1 | 310 | 0.0032 | 2 | c.123 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129743600 | A | ACC | intron_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.124 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129743835 | T | TCC | intron_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.124 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129743900 | T | TCC | intron_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.124 others(15): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 2/20 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129744531 | A | ACC | intron_variant | MODIFIER | NA19059.hp1 | a0005 | a0005c0032 | a0005c0032t0025 | a0005c0032t0025g0002 | 1 | 310 | 0.0032 | 2 | c.234 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129751104 | A | ACC | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG01175.hp2 others(3): Show |
a0001a0024 | a0001c0001a0001c0002a0024c0026 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0002g0211a0001c0001t0005g0247a0001c0002t0001g0225others(3): Show | 6 | 310 | 0.0194 | 2 | c.739 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129751113 | C | CCA | intron_variant | MODIFIER | HG00597.hp2 NA19075.hp1 |
a0001a0026 | a0001c0001a0026c0023 | a0001c0001t0003a0026c0023t0003 | a0001c0001t0003g0082a0026c0023t0003g0001 | 2 | 310 | 0.0065 | 2 | c.739 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129751452 | G | GGT | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 310 | 0.0032 | 2 | c.740 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129751534 | G | GAA | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255 | 1 | 310 | 0.0032 | 2 | c.740 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129751539 | A | AAG | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 310 | 0.0032 | 2 | c.740 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129751587 | A | AAG | intron_variant | MODIFIER | NA18967.hp1 | a0008 | a0008c0008 | a0008c0008t0003 | a0008c0008t0003g0085 | 1 | 310 | 0.0032 | 2 | c.740 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129751591 | A | AAG | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 310 | 0.0032 | 2 | c.740 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129751595 | A | AAG | intron_variant | MODIFIER | HG00735.hp2 HG02080.hp1 |
a0001a0007 | a0001c0002a0007c0022 | a0001c0002t0001a0007c0022t0003 | a0001c0002t0001g0255a0007c0022t0003g0181 | 2 | 310 | 0.0065 | 2 | c.740 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129751640 | A | AGG | intron_variant | MODIFIER | NA18967.hp1 | a0008 | a0008c0008 | a0008c0008t0003 | a0008c0008t0003g0085 | 1 | 310 | 0.0032 | 2 | c.740 others(17): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | chrX | TogoVar | ||||||
XPNPEP2_chrX_129733979_129774536 | 129751656 | A | AAG | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 310 | 0.0032 | 2 | c.740 others(15): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129754215 | A | ACC | intron_variant | MODIFIER | NA19091.hp1 | a0017 | a0017c0013 | a0017c0013t0003 | a0017c0013t0003g0069 | 1 | 310 | 0.0032 | 2 | c.110 others(19): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129756526 | G | GTA | frameshift_variant | HIGH | NA19082.hp1 | a0022 | a0022c0016 | a0022c0016t0001 | a0022c0016t0001g0117 | 1 | 310 | 0.0032 | 2 | c.133 others(11): Show |
p.Leu others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/21 | 1576/3311 | 1341/2025 | 447/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
XPNPEP2_chrX_129733979_129774536 | 129756996 | C | CTA | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01109.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0239a0001c0001t0002g0093a0001c0001t0002g0111others(24): Show | 27 | 310 | 0.0871 | 2 | c.136 others(19): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757023 | T | TAC | intron_variant | MODIFIER | NA18944.hp1 NA18997.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0143a0001c0002t0001g0242 | 2 | 310 | 0.0065 | 2 | c.136 others(19): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757047 | T | TAC | intron_variant | MODIFIER | NA18949.hp1 NA18952.hp1 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100a0001c0001t0004g0101a0001c0001t0004g0102others(2): Show | 5 | 310 | 0.0161 | 2 | c.136 others(19): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757061 | T | TAC | intron_variant | MODIFIER | HG01106.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050a0001c0001t0004g0051 | 2 | 310 | 0.0065 | 2 | c.136 others(19): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757063 | T | TAC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(48): Show |
a0001a0005a0008others(6): Show | a0001c0001a0005c0032a0008c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0174a0001c0001t0003g0003a0001c0001t0003g0004others(48): Show | 51 | 310 | 0.1645 | 2 | c.136 others(19): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757808 | A | AAG | intron_variant | MODIFIER | NA18987.hp1 | a0027 | a0027c0007 | a0027c0007t0020 | a0027c0007t0020g0015 | 1 | 310 | 0.0032 | 2 | c.136 others(21): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757811 | G | GAA | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 310 | 0.0032 | 2 | c.136 others(21): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757851 | G | GAA | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0163 | 1 | 310 | 0.0032 | 2 | c.136 others(21): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757859 | G | GAA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02056.hp1 others(8): Show |
a0001a0027 | a0001c0001a0027c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0053a0001c0001t0001g0121a0001c0001t0001g0123others(8): Show | 11 | 310 | 0.0355 | 2 | c.136 others(21): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
XPNPEP2_chrX_129733979_129774536 | 129757862 | G | GAA | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 310 | 0.0032 | 2 | c.136 others(21): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/20 | chrX | TogoVar |