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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IGSF1_chrX_131268506_131294306 | 131275495 | AG | A | frameshift_variant | HIGH | NA18968.hp1 | a0011 | a0011c0026 | a0011c0026t0001 | a0011c0026t0001g0159 | 1 | 328 | 0.0031 | -1 | c.316 others(5): Show |
p.Leu others(6): Show |
IGSF1 | ENSG00000147255.19 | transcript | ENST00000361420.8 | protein_coding | 16/20 | 3326/4461 | 3166/4011 | 1056/1336 | chrX | TogoVar | ||
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(97): Show | 251 | 448 | 0.5603 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show |
a0001a0010a0012 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(54): Show | 204 | 424 | 0.4811 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | ||
KRT37_chr17_41415547_41429585 | 41422807 | G | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
a0002a0008 | a0002c0002a0002c0020a0008c0009 | a0002c0002t0002a0002c0020t0002a0008c0009t0002 | a0002c0002t0002g0002a0002c0002t0002g0013a0002c0002t0002g0036others(2): Show | 102 | 409 | 0.2494 | 0 | c.703 others(3): Show |
p.Gln others(4): Show |
KRT37 | ENSG00000108417.4 | transcript | ENST00000225550.4 | protein_coding | 3/7 | 765/1743 | 703/1350 | 235/449 | chr17 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0012others(13): Show | a0002c0002a0002c0005a0002c0025others(20): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(22): Show | a0002c0002t0002g0000a0002c0005t0002g0000a0002c0025t0002g0000others(22): Show | 116 | 428 | 0.2710 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | TogoVar | ||
KRTAP29-1_chr17_41296826_41307851 | 41302321 | TGTACAGA others(6): Show |
T | frameshift_variant | HIGH | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show |
a0002a0004a0007 | a0002c0002a0002c0009a0004c0006others(1): Show | a0002c0002t0000a0002c0009t0000a0004c0006t0000others(1): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0004c0006t0000g0000others(1): Show | 85 | 399 | 0.2130 | -13 | c.518 others(20): Show |
p.Pro others(5): Show |
KRTAP29-1 | ENSG00000212658.1 | transcript | ENST00000391353.1 | protein_coding | 1/1 | 530/1026 | 518/1026 | 173/341 | chr17 | TogoVar | ||
KRTAP4-8_chr17_41091981_41103142 | 41097963 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01255.hp2 others(10): Show |
a0005a0008a0010others(1): Show | a0005c0005a0008c0009a0010c0014others(1): Show | a0005c0005t0002a0008c0009t0003a0010c0014t0004others(1): Show | a0005c0005t0002g0000a0008c0009t0003g0000a0010c0014t0004g0000others(1): Show | 13 | 416 | 0.0313 | 1 | c.121 others(4): Show |
p.Arg others(4): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 179/1162 | 121/558 | 41/185 | chr17 | TogoVar | ||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(233): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(12): Show | 236 | 416 | 0.5673 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630158 | GGGGGCCT others(22): Show |
G | frameshift_variant | HIGH | NA18968.hp2 | a0020 | a0020c0028 | a0020c0028t0001 | a0020c0028t0001g0000 | 1 | 445 | 0.0023 | -29 | c.323 others(36): Show |
p.Ala others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 389/1156 | 323/714 | 108/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 251 | 433 | 0.5797 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | chr17 | TogoVar | ||
LILRA2_chr19_54568790_54595287 | 54587200 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(65): Show |
a0001a0014a0017others(1): Show | a0001c0001a0014c0021a0017c0023others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0035others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0018a0001c0001t0003g0019others(14): Show | 68 | 427 | 0.1593 | 0 | c.130 others(6): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(189): Show |
a0002a0003a0004others(34): Show | a0002c0002a0002c0027a0002c0028others(40): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(71): Show | a0002c0002t0003g0002a0002c0002t0003g0043a0002c0002t0003g0140others(97): Show | 192 | 450 | 0.4267 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0003a0010others(16): Show | a0001c0001a0003c0002a0010c0012others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(56): Show | 196 | 455 | 0.4308 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | ||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
a0000a0002a0003 | a0000c0001a0000c0005a0000c0006others(19): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0004others(24): Show | a0000c0001t0001g0002a0000c0001t0001g0003a0000c0001t0001g0004others(180): Show | 207 | 314 | 0.6592 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | ||
LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0000a0002a0003others(1): Show | a0000c0004a0000c0029a0000c0030others(9): Show | a0000c0004t0001a0000c0004t0006a0000c0029t0001others(11): Show | a0000c0004t0001g0039a0000c0004t0001g0050a0000c0004t0001g0106others(48): Show | 52 | 314 | 0.1656 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2434/5144 | 2175/4383 | 725/1460 | chr19 | TogoVar | ||
LMTK3_chr19_48480271_48516835 | 48499794 | T | TG | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00621.hp1 others(8): Show |
a0003a0010 | a0003c0008a0003c0009a0003c0039others(1): Show | a0003c0008t0001a0003c0009t0001a0003c0039t0001others(1): Show | a0003c0008t0001g0082a0003c0008t0001g0094a0003c0008t0001g0157others(8): Show | 11 | 314 | 0.0350 | 1 | c.127 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 1533/5144 | 1274/4383 | 425/1460 | chr19 | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71667810 | T | TC | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.9du others(2): Show |
p.Thr others(3): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 268/1990 | 10/1557 | 4/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71667861 | G | GA | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.59d others(3): Show |
p.Gln others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 318/1990 | 60/1557 | 20/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71667902 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.99_ others(7): Show |
p.Gly others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 358/1990 | 100/1557 | 34/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71667941 | G | GC | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.139 others(4): Show |
p.Arg others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 398/1990 | 140/1557 | 47/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71667947 | T | TC | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.144 others(8): Show |
p.Gly others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 403/1990 | 145/1557 | 49/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71667956 | T | TA | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.155 others(4): Show |
p.Lys others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 414/1990 | 156/1557 | 52/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71668030 | AG | A | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | -1 | c.230 others(4): Show |
p.Gly others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 488/1990 | 230/1557 | 77/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71668074 | C | CT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.271 others(8): Show |
p.Pro others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 530/1990 | 272/1557 | 91/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71668081 | A | ACG | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.279 others(9): Show |
p.Asp others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 539/1990 | 281/1557 | 94/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71668127 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.324 others(8): Show |
p.Pro others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 583/1990 | 325/1557 | 109/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71668226 | C | CGA | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.424 others(9): Show |
p.Gly others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 683/1990 | 425/1557 | 142/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71668295 | C | CT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.492 others(8): Show |
p.His others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 751/1990 | 493/1557 | 165/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71668409 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.606 others(8): Show |
p.Leu others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 865/1990 | 607/1557 | 203/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71668450 | A | ACT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.648 others(9): Show |
p.Leu others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 908/1990 | 650/1557 | 217/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71668502 | GC | G | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | -1 | c.702 others(4): Show |
p.Gly others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 960/1990 | 702/1557 | 234/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71668534 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.731 others(8): Show |
p.Gly others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 990/1990 | 732/1557 | 244/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71668593 | A | AG | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.790 others(8): Show |
p.Ile others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 1049/1990 | 791/1557 | 264/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71668682 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.879 others(8): Show |
p.Val others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 1138/1990 | 880/1557 | 294/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71668839 | C | CG | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.103 others(10): Show |
p.Gln others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 1295/1990 | 1037/1557 | 346/518 | chrX | TogoVar | ||
LOC101059915_chrX_71662546_71676527 | 71669593 | C | CCT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.127 others(11): Show |
p.Val others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 2/6 | 1531/1990 | 1273/1557 | 425/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71669672 | C | CT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.135 others(5): Show |
p.Thr others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 2/6 | 1612/1990 | 1354/1557 | 452/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC101059915_chrX_71662546_71676527 | 71669679 | T | TTC | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.135 others(11): Show |
p.Leu others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 2/6 | 1617/1990 | 1359/1557 | 453/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LOC102725191_chr7_12499441_12546270 | 12523234 | G | GA | frameshift_variant | HIGH | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(120): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(95): Show | 123 | 422 | 0.2915 | 1 | c.274 others(4): Show |
p.Ile others(4): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 2/6 | 378/1221 | 275/771 | 92/256 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MAGEA9B_chrX_149576653_149592459 | 149583004 | TG | T | frameshift_variant | HIGH | NA18968.hp1 | a0010 | a0010c0006 | a0010c0006t0003 | a0010c0006t0003g0038 | 1 | 242 | 0.0041 | -1 | c.175 others(4): Show |
p.Gln others(4): Show |
MAGEA9B | ENSG00000267978.6 | transcript | ENST00000595065.6 | protein_coding | 4/4 | 462/1814 | 175/948 | 59/315 | chrX | TogoVar | ||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0003a0007 | a0002c0002a0002c0003a0002c0010others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0010t0001others(3): Show | a0002c0002t0001g0000a0002c0003t0001g0000a0002c0010t0001g0000others(3): Show | 123 | 277 | 0.4440 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 561/2268 | 358/1572 | 120/523 | chrX | TogoVar | ||
MC2R_chr18_13877044_13920536 | 13884766 | G | T | stop_gained | HIGH | NA18968.hp1 | a0005 | a0005c0005 | a0005c0005t0021 | a0005c0005t0021g0134 | 1 | 416 | 0.0024 | 0 | c.753 others(3): Show |
p.Cys others(4): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 2/2 | 930/3652 | 753/894 | 251/297 | chr18 | TogoVar | ||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0009others(11): Show | 95 | 404 | 0.2352 | -1 | c.494 others(4): Show |
p.Leu others(5): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 6/6 | 605/723 | 494/531 | 165/176 | chr14 | TogoVar | ||
MICA_chr6_31398595_31420315 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0000 | a0000c0002a0000c0004a0000c0014others(2): Show | a0000c0002t0001a0000c0002t0006a0000c0004t0001others(4): Show | a0000c0002t0001g0001a0000c0002t0001g0012a0000c0002t0001g0020others(34): Show | 113 | 439 | 0.2574 | 2 | c.952 others(9): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | ||
MON2_chr12_62461826_62605476 | 62578430 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0031a0001c0006t0003a0001c0006t0007others(20): Show | a0001c0002t0031g0136a0001c0006t0003g0005a0001c0006t0003g0006others(143): Show | 148 | 368 | 0.4022 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MS4A12_chr11_60487778_60512430 | 60497529 | C | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004a0002c0002t0001g0008a0002c0002t0001g0021others(55): Show | 181 | 432 | 0.4190 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 2/7 | 268/1167 | 211/804 | 71/267 | chr11 | TogoVar | ||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(87): Show | 252 | 428 | 0.5888 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | chr11 | TogoVar |