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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
GJC2_chr1_228144930_228164826 | 228158838 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00738.hp2 HG01261.hp1 others(5): Show |
a0000 | a0000c0003a0000c0011 | a0000c0003t0001a0000c0011t0002 | a0000c0003t0001g0001a0000c0003t0001g0002a0000c0003t0001g0003others(4): Show | 8 | 414 | 0.0193 | 1 | c.108 others(5): Show |
p.Ala others(5): Show |
GJC2 | ENSG00000198835.4 | transcript | ENST00000366714.3 | protein_coding | 2/2 | 1182/2165 | 1085/1320 | 362/439 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
GLB1L3_chr11_134271379_134324564 | 134277444 | C | T | stop_gained | HIGH | HG03927.hp1 | a0006 | a0006c0021 | a0006c0021t0001 | a0006c0021t0001g0235 | 1 | 422 | 0.0024 | 0 | c.142 others(3): Show |
p.Gln others(3): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 2/20 | 504/2946 | 142/1962 | 48/653 | chr11 | 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 | ||
GMIP_chr19_19624476_19648657 | 19637409 | C | CG | frameshift_variant | HIGH | HG00609.hp1 HG01099.hp1 HG01978.hp1 others(18): Show |
a0002 | a0002c0002a0002c0008a0002c0009others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0008t0001others(3): Show | a0002c0002t0001g0016a0002c0002t0001g0020a0002c0002t0001g0062others(12): Show | 21 | 416 | 0.0505 | 1 | c.107 others(5): Show |
p.Pro others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 11/21 | 1207/3528 | 1079/2913 | 360/970 | chr19 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440317 | A | ATCCCGCA others(226): Show |
frameshift_variant | HIGH | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(14): Show |
a0002a0009a0027 | a0002c0008a0002c0011a0002c0041others(2): Show | a0002c0008t0007a0002c0008t0013a0002c0008t0021others(5): Show | a0002c0008t0007g0016a0002c0008t0013g0043a0002c0008t0021g0127others(7): Show | 17 | 396 | 0.0429 | 233 | c.215 others(242): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2219/3499 | 2157/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240150 | GAACAGGA others(12): Show |
G | frameshift_variant | HIGH | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | -19 | c.797 others(26): Show |
p.Glu others(5): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 859/4553 | 797/1725 | 266/574 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240352 | T | G | stop_gained | HIGH | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | 0 | c.998 others(3): Show |
p.Leu others(4): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1060/4553 | 998/1725 | 333/574 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240369 | C | T | stop_gained | HIGH | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | 0 | c.101 others(4): Show |
p.Gln others(4): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1077/4553 | 1015/1725 | 339/574 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240430 | T | G | stop_gained | HIGH | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | 0 | c.107 others(4): Show |
p.Leu others(4): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1138/4553 | 1076/1725 | 359/574 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20535014 | C | A | stop_gained | HIGH | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show |
a0001a0006a0010others(13): Show | a0001c0001a0001c0005a0001c0019others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(49): Show | 94 | 214 | 0.4393 | 0 | c.142 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1511/4013 | 1420/2175 | 474/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20535092 | C | A | stop_gained | HIGH | HG01071.hp2 HG01255.hp1 HG01257.hp2 others(7): Show |
a0010a0014a0015others(1): Show | a0010c0013a0010c0029a0014c0015others(2): Show | a0010c0013t0007a0010c0029t0007a0014c0015t0007others(2): Show | a0010c0013t0007g0012a0010c0029t0007g0053a0014c0015t0007g0013others(3): Show | 10 | 214 | 0.0467 | 0 | c.134 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1433/4013 | 1342/2175 | 448/724 | chr15 | 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 | ||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0014others(47): Show | 125 | 400 | 0.3125 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
GTPBP3_chr19_17332553_17347731 | 17341646 | A | AG | frameshift_variant | HIGH | HG00423.hp1 HG00558.hp2 HG01099.hp2 others(46): Show |
a0000 | a0000c0004a0000c0005a0000c0007others(1): Show | a0000c0004t0001a0000c0004t0002a0000c0004t0005others(7): Show | a0000c0004t0001g0006a0000c0004t0001g0007a0000c0004t0001g0019others(19): Show | 49 | 408 | 0.1201 | 1 | c.142 others(5): Show |
p.Thr others(5): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 9/9 | 1487/2566 | 1428/1479 | 476/492 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0118a0001c0001t0001g0120others(106): Show | 110 | 374 | 0.2941 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | 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-A_chr6_29937532_29950870 | 29943463 | T | A | stop_gained | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show |
a0001a0004a0029others(3): Show | a0001c0001a0004c0004a0029c0027others(3): Show | a0001c0001t0002a0004c0004t0004a0029c0027t0004others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0027others(7): Show | 88 | 418 | 0.2105 | 0 | c.539 others(3): Show |
p.Leu others(4): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3/8 | 561/1535 | 539/1098 | 180/365 | 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 | ||
HPF1_chr4_169724470_169762944 | 169750081 | ATATTCCT others(2957): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG03927.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0120 | 1 | 320 | 0.0031 | -2964 | c.208 others(15): Show |
HPF1 | ENSG00000056050.7 | transcript | ENST00000393381.3 | protein_coding | 3/8 | chr4 | 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 | ||
ICAM5_chr19_10284952_10301778 | 10293783 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00642.hp2 HG00673.hp1 others(32): Show |
a0003a0004 | a0003c0005a0003c0008a0003c0012others(4): Show | a0003c0005t0001a0003c0008t0001a0003c0012t0001others(4): Show | a0003c0005t0001g0001a0003c0005t0001g0003a0003c0005t0001g0014others(13): Show | 35 | 432 | 0.0810 | 1 | c.155 others(5): Show |
p.Val others(5): Show |
ICAM5 | ENSG00000105376.5 | transcript | ENST00000221980.5 | protein_coding | 7/11 | 1648/3029 | 1556/2775 | 519/924 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
IDI2_chr10_1013910_1030859 | 1019517 | T | A | stop_lost | HIGH | HG00621.hp1 HG01167.hp1 HG01167.hp2 others(24): Show |
a0000 | a0000c0004a0000c0005a0000c0010 | a0000c0004t0001a0000c0004t0008a0000c0005t0001others(2): Show | a0000c0004t0001g0014a0000c0004t0001g0018a0000c0004t0001g0021others(12): Show | 27 | 434 | 0.0622 | 0 | c.684 others(3): Show |
p.Ter others(11): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 5/5 | 749/1356 | 684/684 | 228/227 | chr10 | 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 | ||
IL34_chr16_70641559_70665682 | 70660097 | C | A | stop_gained | HIGH | HG00140.hp2 HG00323.hp2 HG01123.hp2 others(15): Show |
a0003a0007 | a0003c0003a0007c0013 | a0003c0003t0001a0003c0003t0002a0003c0003t0015others(1): Show | a0003c0003t0001g0012a0003c0003t0001g0014a0003c0003t0001g0015others(10): Show | 18 | 438 | 0.0411 | 0 | c.639 others(3): Show |
p.Tyr others(4): Show |
IL34 | ENSG00000157368.12 | transcript | ENST00000288098.7 | protein_coding | 6/6 | 1028/1613 | 639/729 | 213/242 | chr16 | TogoVar | ||
IL3RA_chrX_1331785_1387689 | 1352194 | C | CG | frameshift_variant | HIGH | HG03927.hp1 | a0013 | a0013c0016 | a0013c0016t0004 | a0013c0016t0004g0054 | 1 | 115 | 0.0087 | 1 | c.394 others(4): Show |
p.Ala others(5): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 5/12 | 575/1541 | 395/1137 | 132/378 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IQSEC1_chr3_12892043_13078429 | 12901341 | T | TG | frameshift_variant | HIGH | HG01978.hp1 HG01978.hp2 HG02027.hp1 others(14): Show |
a0000 | a0000c0002a0000c0015a0000c0019others(2): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0005others(8): Show | a0000c0002t0001g0084a0000c0002t0001g0087a0000c0002t0001g0090others(14): Show | 17 | 250 | 0.0680 | 1 | c.298 others(5): Show |
p.His others(5): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 14/14 | 3401/7700 | 2986/3345 | 996/1114 | chr3 | TogoVar | ||
IRS4_chrX_108714946_108741563 | 108734572 | G | GC | frameshift_variant | HIGH | HG03927.hp2 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0070 | 1 | 308 | 0.0033 | 1 | c.177 others(5): Show |
p.Lys others(5): Show |
IRS4 | ENSG00000133124.12 | transcript | ENST00000372129.4 | protein_coding | 1/2 | 1991/6563 | 1772/3771 | 591/1256 | chrX | TogoVar | ||
IRX5_chr16_54925865_54939485 | 54933218 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(30): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0001a0004c0005t0001a0004c0005t0002others(2): Show | a0003c0004t0001g0001a0003c0004t0001g0009a0004c0005t0001g0001others(4): Show | 33 | 390 | 0.0846 | 1 | c.805 others(4): Show |
p.Arg others(5): Show |
IRX5 | ENSG00000176842.16 | transcript | ENST00000394636.9 | protein_coding | 3/3 | 1140/2398 | 806/1452 | 269/483 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
KCNC3_chr19_50306937_50334377 | 50323201 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp2 HG01109.hp1 others(11): Show |
a0002a0014 | a0002c0003a0002c0009a0014c0016 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(8): Show | a0002c0003t0001g0039a0002c0003t0001g0176a0002c0003t0002g0065others(10): Show | 14 | 380 | 0.0368 | 1 | c.175 others(5): Show |
p.Pro others(5): Show |
KCNC3 | ENSG00000131398.15 | transcript | ENST00000477616.2 | protein_coding | 2/5 | 2046/6747 | 1751/2274 | 584/757 | chr19 | TogoVar | ||
KCTD1_chr18_26449910_26553553 | 26547048 | T | TG | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show |
a0002 | a0002c0003a0002c0006a0002c0014others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(4): Show | a0002c0003t0001g0300a0002c0003t0001g0301a0002c0003t0001g0302others(32): Show | 35 | 338 | 0.1036 | 1 | c.148 others(5): Show |
p.Thr others(5): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/5 | 1505/3448 | 1488/2598 | 496/865 | chr18 | 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 | |||||
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 | |
KIF26A_chr14_104133587_104185894 | 104177436 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG01099.hp2 HG01169.hp2 others(18): Show |
a0002a0012a0013others(1): Show | a0002c0013a0002c0019a0002c0023others(11): Show | a0002c0013t0001a0002c0013t0002a0002c0013t0003others(16): Show | a0002c0013t0001g0360a0002c0013t0002g0129a0002c0013t0003g0224others(18): Show | 21 | 374 | 0.0562 | 1 | c.465 others(5): Show |
p.Thr others(6): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 12/15 | 4789/6889 | 4653/5649 | 1551/1882 | INFO_REALIGN_3_PRIME | chr14 | 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 | ||||||
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 | |||||
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 | ||
KRT27_chr17_40771808_40787550 | 40779628 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG03704.hp2 HG03710.hp2 HG03927.hp2 others(2): Show |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0024a0005c0004t0001g0079 | 5 | 464 | 0.0108 | 0 | c.847 others(5): Show |
KRT27 | ENSG00000171446.7 | transcript | ENST00000301656.4 | protein_coding | 4/7 | 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 | ||
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 | ||
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 | 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 | ||
KRTAP9-1_chr17_41184887_41195639 | 41189887 | A | G | start_lost | HIGH | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 43 | 460 | 0.0935 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 1/753 | 1/753 | 1/250 | chr17 | TogoVar | ||
KRTAP9-6_chr17_41260378_41270860 | 41265460 | TTGTGACC others(5393): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0000 | a0000c0001 | a0000c0001t0000 | a0000c0001t0000g0000 | 141 | 248 | 0.5686 | -5400 | c.84_ others(8): Show |
p.Ile others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 84/483 | 84/483 | 28/160 | chr17 | TogoVar | ||
LACTBL1_chr1_22948043_22977866 | 22953998 | G | T | stop_gained | HIGH | HG02148.hp2 HG02273.hp1 HG03927.hp2 others(1): Show |
a0009a0013 | a0009c0012a0013c0011 | a0009c0012t0001a0013c0011t0001 | a0009c0012t0001g0182a0009c0012t0001g0222a0013c0011t0001g0288others(1): Show | 4 | 450 | 0.0089 | 0 | c.785 others(3): Show |
p.Ser others(4): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 8/8 | 995/1950 | 785/1740 | 262/579 | chr1 | TogoVar |