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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARMCX4_chrX_101480456_101500807 | 101492966 | TG | T | frameshift_variant | HIGH | NA18976.hp1 | a0055 | a0055c0032 | a0055c0032t0002 | a0055c0032t0002g0035 | 1 | 326 | 0.0031 | -1 | c.438 others(5): Show |
p.Pro others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 4891/7729 | 4380/6873 | 1460/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101492981 | AT | A | frameshift_variant | HIGH | NA18976.hp2 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0002 | 1 | 326 | 0.0031 | -1 | c.439 others(5): Show |
p.Phe others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 4906/7729 | 4395/6873 | 1465/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101493314 | AT | A | frameshift_variant | HIGH | NA18976.hp2 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0002 | 1 | 326 | 0.0031 | -1 | c.472 others(5): Show |
p.Phe others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5239/7729 | 4728/6873 | 1576/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101493810 | GC | G | frameshift_variant | HIGH | NA18976.hp2 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0002 | 1 | 326 | 0.0031 | -1 | c.522 others(5): Show |
p.Val others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5734/7729 | 5223/6873 | 1741/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101493950 | CA | C | frameshift_variant | HIGH | NA18976.hp2 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0002 | 1 | 326 | 0.0031 | -1 | c.536 others(5): Show |
p.Lys others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5874/7729 | 5363/6873 | 1788/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(418): Show |
frameshift_variant | HIGH | NA18976.hp2 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0002 | 1 | 326 | 0.0031 | 425 | c.546 others(434): Show |
p.Ala others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494190 | TG | T | frameshift_variant | HIGH | NA18976.hp2 NA19089.hp1 |
a0021a0031 | a0021c0063a0031c0052 | a0021c0063t0001a0031c0052t0001 | a0021c0063t0001g0002a0031c0052t0001g0002 | 2 | 326 | 0.0061 | -1 | c.560 others(5): Show |
p.Glu others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6116/7729 | 5605/6873 | 1869/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494566 | GC | G | frameshift_variant | HIGH | NA18976.hp2 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0002 | 1 | 326 | 0.0031 | -1 | c.597 others(5): Show |
p.Met others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6490/7729 | 5979/6873 | 1993/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494632 | TC | T | frameshift_variant | HIGH | NA18976.hp2 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0002 | 1 | 326 | 0.0031 | -1 | c.604 others(5): Show |
p.Arg others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6556/7729 | 6045/6873 | 2015/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494669 | C | CCTGGT | frameshift_variant | HIGH | NA18976.hp2 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0002 | 1 | 326 | 0.0031 | 5 | c.608 others(14): Show |
p.Cys others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6599/7729 | 6088/6873 | 2030/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMH2_chr6_24792335_24803917 | 24797412 | A | G | stop_lost | HIGH | HG00140.hp1 HG02622.hp1 HG02738.hp1 others(2): Show |
a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0006 | 5 | 444 | 0.0113 | 0 | c.691 others(3): Show |
p.Ter others(11): Show |
ARMH2 | ENSG00000260286.4 | transcript | ENST00000565469.4 | protein_coding | 2/2 | 751/828 | 691/693 | 231/230 | chr6 | TogoVar | ||
BTN3A2_chr6_26360198_26383312 | 26368051 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001a0004c0005t0003g0029a0004c0005t0003g0030others(6): Show | 35 | 382 | 0.0916 | 0 | c.-6+ others(4): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
FAM110C_chr2_33814_51505 | 46307 | C | CG | frameshift_variant | HIGH | NA18947.hp2 NA18976.hp2 NA18978.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0003 | a0003c0003t0001g0017a0003c0003t0002g0033a0003c0003t0003g0018 | 7 | 442 | 0.0158 | 1 | c.78d others(3): Show |
p.Asp others(4): Show |
FAM110C | ENSG00000184731.6 | transcript | ENST00000327669.5 | protein_coding | 1/2 | 198/3880 | 78/966 | 26/321 | chr2 | TogoVar | ||
FAM166B_chr9_35556831_35568878 | 35562396 | A | ATAGT | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0005 | a0002c0003t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0002c0003t0001g0003a0002c0003t0001g0015a0002c0003t0001g0017others(4): Show | 87 | 436 | 0.1995 | 4 | c.719 others(11): Show |
p.Tyr others(5): Show |
FAM166B | ENSG00000215187.13 | transcript | ENST00000399742.7 | protein_coding | 5/6 | 772/1054 | 722/828 | 241/275 | chr9 | TogoVar | ||
GDF9_chr5_132856185_132871469 | 132862558 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA18976.hp2 | a0005 | a0005c0007 | a0005c0007t0020 | a0005c0007t0020g0039 | 1 | 464 | 0.0022 | 0 | c.398 others(5): Show |
GDF9 | ENSG00000164404.9 | transcript | ENST00000687138.1 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
GPX7_chr1_52597371_52614051 | 52606716 | C | A | stop_gained | HIGH | NA18976.hp2 NA18983.hp1 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0002 | 2 | 372 | 0.0054 | 0 | c.171 others(3): Show |
p.Cys others(3): Show |
GPX7 | ENSG00000116157.6 | transcript | ENST00000361314.5 | protein_coding | 2/3 | 210/1229 | 171/564 | 57/187 | chr1 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630207 | GGGGGGTC others(22): Show |
G | frameshift_variant | HIGH | NA18976.hp1 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0000 | 1 | 445 | 0.0023 | -29 | c.373 others(36): Show |
p.Ser others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 439/1156 | 373/714 | 125/237 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||
MAGEE1_chrX_76422710_76436342 | 76430698 | GA | G | frameshift_variant | HIGH | NA18976.hp1 | a0000 | a0000c0008 | a0000c0008t0003 | a0000c0008t0003g0000 | 1 | 292 | 0.0034 | -1 | c.277 others(5): Show |
p.Lys others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 2992/3633 | 2771/2874 | 924/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MFSD3_chr8_144504070_144516213 | 144510832 | G | T | stop_gained | HIGH | NA18976.hp2 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0001 | 1 | 400 | 0.0025 | 0 | c.994 others(3): Show |
p.Gly others(4): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 4/5 | 1258/1552 | 994/1239 | 332/412 | chr8 | TogoVar | ||
OR2L8_chr1_247943858_247954796 | 247949724 | T | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0000a0001c0002t0000a0001c0006t0000others(4): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0006t0000g0000others(4): Show | 276 | 379 | 0.7282 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248361635 | ATGGGACT others(77): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
a0003a0006 | a0003c0003a0003c0009a0006c0007 | a0003c0003t0000a0003c0009t0000a0006c0007t0000 | a0003c0003t0000g0000a0003c0009t0000g0000a0006c0007t0000g0000 | 107 | 428 | 0.2500 | -84 | c.-29 others(90): Show |
p.Met others(3): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 1/963 | 1/320 | chr1 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005others(1): Show | a0003c0003a0003c0009a0004c0005others(2): Show | a0003c0003t0000a0003c0009t0000a0004c0005t0000others(2): Show | a0003c0003t0000g0000a0003c0009t0000g0000a0004c0005t0000g0000others(2): Show | 136 | 428 | 0.3178 | 2 | c.362 others(9): Show |
p.Met others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 363/963 | 363/963 | 121/320 | chr1 | TogoVar | ||
OR52N4_chr11_5749243_5760958 | 5755254 | A | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(63): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0001a0003c0003t0006g0001 | 66 | 472 | 0.1398 | 0 | c.514 others(3): Show |
p.Arg others(4): Show |
OR52N4 | ENSG00000181074.5 | transcript | ENST00000641350.2 | protein_coding | 2/2 | 625/1329 | 514/966 | 172/321 | chr11 | TogoVar | ||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | ||
OR5K2_chr3_98492681_98503631 | 98498334 | T | A | stop_gained | HIGH | HG00099.hp1 HG00642.hp2 HG00673.hp1 others(46): Show |
a0002 | a0002c0002a0002c0003a0002c0011 | a0002c0002t0000a0002c0003t0000a0002c0011t0000 | a0002c0002t0000g0000a0002c0003t0000g0000a0002c0011t0000g0000 | 49 | 486 | 0.1008 | 0 | c.654 others(3): Show |
p.Tyr others(4): Show |
OR5K2 | ENSG00000231861.3 | transcript | ENST00000427338.3 | protein_coding | 1/1 | 654/951 | 654/951 | 218/316 | chr3 | TogoVar | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | ||
PBOV1_chr6_138210986_138223491 | 138218046 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(87): Show |
a0000 | a0000c0002a0000c0004 | a0000c0002t0002a0000c0002t0005a0000c0002t0009others(3): Show | a0000c0002t0002g0000a0000c0002t0005g0000a0000c0002t0009g0000others(3): Show | 90 | 384 | 0.2344 | 1 | c.349 others(4): Show |
p.Leu others(5): Show |
PBOV1 | ENSG00000254440.3 | transcript | ENST00000527246.3 | protein_coding | 1/1 | 445/2506 | 349/408 | 117/135 | chr6 | TogoVar | ||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0022others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0034others(62): Show | 245 | 417 | 0.5875 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | ||
RBMXL2_chr11_7083998_7096148 | 7089456 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp2 HG01099.hp2 others(39): Show |
a0003a0005a0010others(1): Show | a0003c0004a0003c0005a0003c0011others(4): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(9): Show | a0003c0004t0001g0000a0003c0004t0002g0000a0003c0004t0003g0000others(9): Show | 42 | 460 | 0.0913 | 1 | c.341 others(4): Show |
p.Gly others(5): Show |
RBMXL2 | ENSG00000170748.7 | transcript | ENST00000306904.7 | protein_coding | 1/1 | 465/2151 | 342/1179 | 114/392 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
RITA1_chr12_113180721_113197368 | 113191579 | C | G | stop_gained | HIGH | NA18976.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0090 | 1 | 386 | 0.0026 | 0 | c.572 others(3): Show |
p.Ser others(4): Show |
RITA1 | ENSG00000139405.16 | transcript | ENST00000548278.2 | protein_coding | 4/4 | 1069/1858 | 572/810 | 191/269 | chr12 | TogoVar | ||
SRRD_chr22_26478877_26499658 | 26483989 | GCCCCGGG others(15): Show |
G | frameshift_variant | HIGH | NA18976.hp1 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0010 | 1 | 448 | 0.0022 | -22 | c.103 others(29): Show |
p.Arg others(4): Show |
SRRD | ENSG00000100104.13 | transcript | ENST00000215917.11 | protein_coding | 1/7 | 117/4020 | 103/1020 | 35/339 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(223): Show | 407 | 416 | 0.9784 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | ||
ZC3HAV1L_chr7_139020706_139041042 | 139026727 | CGACTGAG others(4): Show |
C | frameshift_variant | HIGH | NA18976.hp1 | a0000 | a0000c0008 | a0000c0008t0014 | a0000c0008t0014g0084 | 1 | 410 | 0.0024 | -11 | c.856 others(18): Show |
p.Pro others(5): Show |
ZC3HAV1L | ENSG00000146858.8 | transcript | ENST00000275766.2 | protein_coding | 4/5 | 891/1766 | 856/903 | 286/300 | chr7 | TogoVar | ||
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(137): Show |
a0000 | a0000c0003a0000c0004a0000c0005others(2): Show | a0000c0003t0001a0000c0004t0001a0000c0005t0001others(2): Show | a0000c0003t0001g0002a0000c0003t0001g0005a0000c0003t0001g0008others(90): Show | 140 | 408 | 0.3431 | -1 | c.198 others(5): Show |
p.Leu others(5): Show |
ZNF233 | ENSG00000159915.13 | transcript | ENST00000683810.1 | protein_coding | 5/5 | 2083/2757 | 1983/2013 | 661/670 | chr19 | TogoVar |