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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXO5_chr1_40503767_40521038 | 40515335 | CTG | C | frameshift_variant | HIGH | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0002a0004c0004t0002g0048a0004c0004t0002g0050 | 18 | 406 | 0.0443 | -2 | c.794 others(9): Show |
p.Val others(5): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 4/4 | 1199/1899 | 794/1122 | 265/373 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FAAH2_chrX_57281706_57494193 | 57488820 | TC | T | frameshift_variant | HIGH | NA18955.hp1 NA18974.hp1 |
a0006a0007 | a0006c0009a0007c0008 | a0006c0009t0002a0007c0008t0004 | a0006c0009t0002g0192a0007c0008t0004g0117 | 2 | 282 | 0.0071 | -1 | c.149 others(5): Show |
p.Pro others(5): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 11/11 | 1610/1980 | 1490/1599 | 497/532 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0002g0018a0002c0005t0001g0006others(7): Show | 126 | 450 | 0.2800 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | ||
FAM25A_chr10_87015294_87029730 | 87020355 | G | T | stop_gained | HIGH | HG00423.hp2 HG01993.hp2 HG02004.hp1 others(14): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005a0002c0004t0001g0050 | 17 | 444 | 0.0383 | 0 | c.31G others(2): Show |
p.Glu others(3): Show |
FAM25A | ENSG00000188100.9 | transcript | ENST00000343959.5 | protein_coding | 1/3 | 62/357 | 31/270 | 11/89 | chr10 | TogoVar | ||
FANCB_chrX_14838405_14878069 | 14865145 | CA | C | frameshift_variant | HIGH | NA18955.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0045 | 1 | 274 | 0.0037 | -1 | c.365 others(4): Show |
p.Leu others(5): Show |
FANCB | ENSG00000181544.16 | transcript | ENST00000650831.1 | protein_coding | 3/10 | 640/3017 | 365/2580 | 122/859 | chrX | TogoVar | ||
FBXO39_chr17_6771215_6792646 | 6776273 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18955.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0209 | 1 | 456 | 0.0022 | 0 | c.-81 others(5): Show |
FBXO39 | ENSG00000177294.7 | transcript | ENST00000321535.5 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
FBXW10_chr17_18739054_18784349 | 18744245 | A | G | start_lost | HIGH | NA18955.hp1 NA19054.hp2 |
a0015 | a0015c0030a0015c0031 | a0015c0030t0001a0015c0031t0003 | a0015c0030t0001g0258a0015c0031t0003g0217 | 2 | 386 | 0.0052 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
FBXW10 | ENSG00000171931.13 | transcript | ENST00000395665.9 | protein_coding | 1/14 | 192/3401 | 1/3159 | 1/1052 | chr17 | TogoVar | ||
FBXW10_chr17_18739054_18784349 | 18766815 | C | T | stop_gained | HIGH | HG02132.hp2 NA18955.hp2 |
a0014 | a0014c0013 | a0014c0013t0003 | a0014c0013t0003g0072a0014c0013t0003g0073 | 2 | 386 | 0.0052 | 0 | c.165 others(4): Show |
p.Arg others(4): Show |
FBXW10 | ENSG00000171931.13 | transcript | ENST00000395665.9 | protein_coding | 9/14 | 1848/3401 | 1657/3159 | 553/1052 | chr17 | TogoVar | ||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154357573 | GC | G | frameshift_variant | HIGH | NA18955.hp1 | a0011 | a0011c0026 | a0011c0026t0001 | a0011c0026t0001g0064 | 1 | 279 | 0.0036 | -1 | c.480 others(5): Show |
p.Gly others(6): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 29/48 | 5050/8507 | 4805/7944 | 1602/2647 | chrX | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(3): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(5): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(5): Show | 99 | 326 | 0.3037 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(4): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(6): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(6): Show | 101 | 326 | 0.3098 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | TogoVar | ||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | ||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | ||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | ||
GPS2_chr17_7307661_7320360 | 7315329 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 HG02040.hp1 HG02083.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 5 | 414 | 0.0121 | 0 | c.-68 others(5): Show |
GPS2 | ENSG00000132522.16 | transcript | ENST00000380728.7 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
GRIN2C_chr17_74837023_74864885 | 74842991 | A | AGCTCCGG others(3): Show |
frameshift_variant | HIGH | NA18955.hp2 | a0000 | a0000c0029 | a0000c0029t0001 | a0000c0029t0001g0051 | 1 | 360 | 0.0028 | 10 | c.314 others(19): Show |
p.Leu others(6): Show |
GRIN2C | ENSG00000161509.14 | transcript | ENST00000293190.10 | protein_coding | 13/13 | 3302/4271 | 3145/3702 | 1049/1233 | chr17 | TogoVar | ||
HCFC1_chrX_153942557_153976818 | 153963383 | AC | A | frameshift_variant | HIGH | NA18955.hp1 | a0015 | a0015c0013 | a0015c0013t0002 | a0015c0013t0002g0093 | 1 | 268 | 0.0037 | -1 | c.553 others(4): Show |
p.Val others(5): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 4/26 | 1531/8876 | 553/6108 | 185/2035 | chrX | TogoVar | ||
HCFC1_chrX_153942557_153976818 | 153964165 | A | AC | frameshift_variant | HIGH | NA18955.hp1 | a0015 | a0015c0013 | a0015c0013t0002 | a0015c0013t0002g0093 | 1 | 268 | 0.0037 | 1 | c.461 others(4): Show |
p.Leu others(5): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 3/26 | 1439/8876 | 461/6108 | 154/2035 | chrX | TogoVar | ||
HCFC1_chrX_153942557_153976818 | 153964175 | A | AG | frameshift_variant | HIGH | NA18955.hp1 | a0015 | a0015c0013 | a0015c0013t0002 | a0015c0013t0002g0093 | 1 | 268 | 0.0037 | 1 | c.451 others(4): Show |
p.Leu others(5): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 3/26 | 1429/8876 | 451/6108 | 151/2035 | chrX | TogoVar | ||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
HLA-DPB1_chr6_33070990_33094696 | 33080689 | G | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show |
a0000a0006a0008others(10): Show | a0000c0009a0000c0012a0000c0018others(15): Show | a0000c0009t0006a0000c0009t0018a0000c0012t0006others(18): Show | a0000c0009t0006g0014a0000c0009t0006g0038a0000c0009t0006g0089others(31): Show | 116 | 455 | 0.2550 | 0 | c.118 others(3): Show |
p.Gly others(3): Show |
HLA-DPB1 | ENSG00000223865.11 | transcript | ENST00000418931.7 | protein_coding | 2/6 | 170/3991 | 118/777 | 40/258 | chr6 | TogoVar | ||
HLA-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005a0005c0006t0004g0016a0005c0006t0004g0022others(15): Show | 102 | 402 | 0.2537 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0003a0003c0002a0005c0008others(21): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(22): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(76): Show | 131 | 208 | 0.6298 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | ||
HMGXB3_chr5_149995739_150058128 | 150010109 | A | C | splice_acceptor_variant others(1): Show |
HIGH | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 380 | 0.0026 | 0 | c.313 others(5): Show |
HMGXB3 | ENSG00000113716.13 | transcript | ENST00000502717.6 | protein_coding | 3/19 | chr5 | TogoVar | ||||||
HOMER3_chr19_18924203_18946217 | 18929445 | A | G | stop_lost | HIGH | NA18955.hp2 NA18964.hp2 NA18985.hp1 others(2): Show |
a0000 | a0000c0006 | a0000c0006t0001 | a0000c0006t0001g0045a0000c0006t0001g0157a0000c0006t0001g0159others(1): Show | 5 | 412 | 0.0121 | 0 | c.108 others(4): Show |
p.Ter others(11): Show |
HOMER3 | ENSG00000051128.19 | transcript | ENST00000392351.8 | protein_coding | 10/10 | 1318/1560 | 1084/1086 | 362/361 | chr19 | TogoVar | ||
HP_chr16_72049505_72066055 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0006a0002c0018 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0018a0002c0002t0001g0023others(6): Show | 105 | 425 | 0.2471 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HRNR_chr1_152207076_152229193 | 152218472 | G | A | stop_gained | HIGH | NA18955.hp1 | a0001 | a0001c0193 | a0001c0193t0002 | a0001c0193t0002g0208 | 1 | 418 | 0.0024 | 0 | c.315 others(4): Show |
p.Arg others(5): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3233/9629 | 3157/8553 | 1053/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
IDO2_chr8_39929651_40021392 | 40015416 | T | A | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0003c0003t0003a0003c0003t0010others(14): Show | a0003c0003t0002g0014a0003c0003t0002g0015a0003c0003t0002g0021others(102): Show | 106 | 360 | 0.2944 | 0 | c.103 others(4): Show |
p.Tyr others(4): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 11/11 | 1623/2599 | 1038/1224 | 346/407 | chr8 | TogoVar | ||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000a0002c0002t0012g0000a0002c0002t0013g0000others(13): Show | 194 | 457 | 0.4245 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | ||
IPO7_chr11_9379652_9453127 | 9438045 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00673.hp1 HG01192.hp2 HG01346.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(17): Show | 20 | 314 | 0.0637 | 1 | c.249 others(7): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(169): Show | 191 | 370 | 0.5162 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(35): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0022others(106): Show | 111 | 390 | 0.2846 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KIAA1191_chr5_176341062_176366764 | 176361601 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 406 | 0.0025 | 0 | c.-16 others(6): Show |
KIAA1191 | ENSG00000122203.15 | transcript | ENST00000298569.9 | protein_coding | 1/8 | chr5 | 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 | |
KISS1_chr1_204185341_204201491 | 204190483 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show |
a0000 | a0000c0002 | a0000c0002t0002a0000c0002t0004a0000c0002t0008others(1): Show | a0000c0002t0002g0001a0000c0002t0002g0008a0000c0002t0002g0020others(31): Show | 121 | 400 | 0.3025 | -1 | c.417 others(4): Show |
p.Ter others(5): Show |
KISS1 | ENSG00000170498.10 | transcript | ENST00000367194.5 | protein_coding | 3/3 | 571/714 | 417/417 | 139/138 | chr1 | TogoVar | ||
KLF16_chr19_1847399_1868579 | 1854587 | C | CG | frameshift_variant | HIGH | HG00438.hp2 HG00735.hp2 HG01099.hp2 others(23): Show |
a0000 | a0000c0004a0000c0005a0000c0009 | a0000c0004t0002a0000c0004t0004a0000c0004t0005others(5): Show | a0000c0004t0002g0075a0000c0004t0002g0081a0000c0004t0002g0083others(22): Show | 26 | 398 | 0.0653 | 1 | c.630 others(4): Show |
p.Gly others(5): Show |
KLF16 | ENSG00000129911.9 | transcript | ENST00000250916.6 | protein_coding | 2/2 | 712/2901 | 630/759 | 210/252 | chr19 | 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 | ||||||
KMT2B_chr19_35713003_35743878 | 35733317 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG00741.hp2 HG02080.hp1 others(14): Show |
a0005a0008a0010others(1): Show | a0005c0007a0005c0015a0005c0017others(5): Show | a0005c0007t0001a0005c0015t0001a0005c0017t0001others(6): Show | a0005c0007t0001g0001a0005c0007t0001g0002a0005c0007t0001g0012others(10): Show | 17 | 396 | 0.0429 | 1 | c.677 others(5): Show |
p.Pro others(6): Show |
KMT2B | ENSG00000272333.8 | transcript | ENST00000420124.4 | protein_coding | 28/37 | 6790/8485 | 6774/8148 | 2258/2715 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0001c0025others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 282 | 414 | 0.6812 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KRTAP1-1_chr17_41035541_41046450 | 41041247 | G | A | stop_gained | HIGH | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show |
a0002 | a0002c0002a0002c0006a0002c0014 | a0002c0002t0001a0002c0006t0001a0002c0014t0001 | a0002c0002t0001g0000a0002c0006t0001g0000a0002c0014t0001g0000 | 78 | 403 | 0.1936 | 0 | c.151 others(3): Show |
p.Gln others(3): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 204/910 | 151/534 | 51/177 | 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 | ||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0007a0008c0008others(1): Show | a0002c0002t0001a0007c0007t0001a0008c0008t0001others(1): Show | a0002c0002t0001g0000a0007c0007t0001g0000a0008c0008t0001g0000others(1): Show | 121 | 462 | 0.2619 | 0 | c.405 others(3): Show |
p.Cys others(4): Show |
KRTAP13-2 | ENSG00000182816.9 | transcript | ENST00000399889.4 | protein_coding | 1/1 | 463/882 | 405/528 | 135/175 | chr21 | TogoVar | ||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0000 | a0000c0001a0000c0003a0000c0004others(2): Show | a0000c0001t0001a0000c0003t0001a0000c0004t0001others(2): Show | a0000c0001t0001g0000a0000c0003t0001g0000a0000c0004t0001g0000others(2): Show | 304 | 394 | 0.7716 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | ||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0005a0001c0002t0013others(2): Show | a0001c0002t0001g0000a0001c0002t0005g0000a0001c0002t0013g0000others(2): Show | 147 | 411 | 0.3577 | 105 | c.324 others(112): Show |
p.Cys others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | 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 |