| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GOLGA6L2_chr15_23434038_23452243 | 23439745 | T | G | stop_lost | HIGH | HG00735.hp2 | a0001 | a0001c0052 | a0001c0052t0001 | a0001c0052t0001g0069 | 1 | 396 | 0.0025 | 0 | c.273 others(4): Show |
p.Ter others(11): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2792/3499 | 2730/2730 | 910/909 | chr15 | TogoVar | ||
| GOLGA6L6_chr15_20526856_20546800 | 20534261 | A | G | stop_lost others(1): Show |
HIGH | NA18906.hp1 | a0001 | a0001c0038 | a0001c0038t0016 | a0001c0038t0016g0078 | 1 | 214 | 0.0047 | 0 | c.217 others(4): Show |
p.Ter others(11): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 2264/4013 | 2173/2175 | 725/724 | chr15 | TogoVar | ||
| GPANK1_chr6_31656228_31669997 | 31662268 | A | T | stop_lost | HIGH | NA18960.hp1 | a0000 | a0000c0013 | a0000c0013t0016 | a0000c0013t0016g0042 | 1 | 433 | 0.0023 | 0 | c.106 others(4): Show |
p.Ter others(11): Show |
GPANK1 | ENSG00000204438.11 | transcript | ENST00000375896.9 | protein_coding | 3/3 | 1325/2365 | 1069/1071 | 357/356 | chr6 | TogoVar | ||
| GPR68_chr14_91227532_91249704 | 91233953 | C | G | stop_lost | HIGH | HG03491.hp2 | a0000 | a0000c0009 | a0000c0009t0012 | a0000c0009t0012g0066 | 1 | 420 | 0.0024 | 0 | c.109 others(4): Show |
p.Ter others(11): Show |
GPR68 | ENSG00000119714.11 | transcript | ENST00000650645.1 | protein_coding | 2/2 | 1635/3056 | 1098/1098 | 366/365 | chr14 | TogoVar | ||
| GPR68_chr14_91227532_91249704 | 91233954 | T | A | stop_lost | HIGH | HG03491.hp2 | a0000 | a0000c0009 | a0000c0009t0012 | a0000c0009t0012g0066 | 1 | 420 | 0.0024 | 0 | c.109 others(4): Show |
p.Ter others(11): Show |
GPR68 | ENSG00000119714.11 | transcript | ENST00000650645.1 | protein_coding | 2/2 | 1634/3056 | 1097/1098 | 366/365 | chr14 | TogoVar | ||
| GZMH_chr14_24601480_24614685 | 24606604 | T | A | stop_lost | HIGH | HG02486.hp2 HG02615.hp1 HG02647.hp2 others(5): Show |
a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0006 | 8 | 422 | 0.0190 | 0 | c.740 others(3): Show |
p.Ter others(11): Show |
GZMH | ENSG00000100450.13 | transcript | ENST00000216338.9 | protein_coding | 5/5 | 812/936 | 740/741 | 247/246 | chr14 | TogoVar | ||
| HCAR2_chr12_122696293_122708357 | 122702193 | TAAGGA | T | frameshift_variant others(1): Show |
HIGH | HG00597.hp1 HG00609.hp1 NA18747.hp1 others(2): Show |
a0000 | a0000c0004a0000c0006 | a0000c0004t0006a0000c0006t0006 | a0000c0004t0006g0000a0000c0006t0006g0000 | 5 | 428 | 0.0117 | -5 | c.108 others(14): Show |
p.Pro others(5): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 1/1 | 1164/2065 | 1086/1092 | 362/363 | chr12 | 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 | ||
| HOXA5_chr7_27136052_27148681 | 27141807 | CTGCTCAG others(52): Show |
C | frameshift_variant others(1): Show |
HIGH | HG02040.hp1 | a0000 | a0000c0003 | a0000c0003t0021 | a0000c0003t0021g0031 | 1 | 398 | 0.0025 | -59 | c.782 others(66): Show |
p.Met others(5): Show |
HOXA5 | ENSG00000106004.5 | transcript | ENST00000222726.4 | protein_coding | 2/2 | 914/1670 | 782/813 | 261/270 | chr7 | TogoVar | ||
| HPF1_chr4_169724470_169762944 | 169729580 | A | T | stop_lost | HIGH | HG01168.hp2 | a0000 | a0000c0008 | a0000c0008t0001 | a0000c0008t0001g0209 | 1 | 320 | 0.0031 | 0 | c.103 others(4): Show |
p.Ter others(11): Show |
HPF1 | ENSG00000056050.7 | transcript | ENST00000393381.3 | protein_coding | 8/8 | 1106/1216 | 1039/1041 | 347/346 | chr4 | TogoVar | ||
| HSD17B2_chr16_82030253_82103534 | 82098435 | A | G | stop_lost | HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(17): Show |
a0000 | a0000c0002a0000c0004 | a0000c0002t0001a0000c0002t0002a0000c0004t0001 | a0000c0002t0001g0306a0000c0002t0001g0308a0000c0002t0001g0314others(16): Show | 20 | 366 | 0.0546 | 0 | c.116 others(4): Show |
p.Ter others(11): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 5/5 | 1335/1434 | 1163/1164 | 388/387 | chr16 | TogoVar | ||
| HSFY2_chrY_18766814_18778735 | 18771937 | A | G | stop_lost | HIGH | HG02717.hp1 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0003 | 1 | 67 | 0.0149 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
HSFY2 | ENSG00000169953.12 | transcript | ENST00000304790.3 | protein_coding | 2/2 | 1321/1444 | 1204/1206 | 402/401 | chrY | 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 | ||
| INMT_chr7_30747135_30762602 | 30755850 | G | C | stop_lost | HIGH | HG01256.hp1 HG01257.hp1 HG01258.hp2 others(2): Show |
a0000 | a0000c0011 | a0000c0011t0004a0000c0011t0027a0000c0011t0047 | a0000c0011t0004g0004a0000c0011t0027g0004a0000c0011t0047g0044 | 5 | 434 | 0.0115 | 0 | c.791 others(3): Show |
p.Ter others(11): Show |
INMT | ENSG00000241644.2 | transcript | ENST00000013222.5 | protein_coding | 3/3 | 807/2559 | 791/792 | 264/263 | chr7 | TogoVar | ||
| JAK1_chr1_64828229_64971549 | 64834564 | A | G | stop_lost | HIGH | HG04184.hp2 | a0000 | a0000c0011 | a0000c0011t0010 | a0000c0011t0010g0025 | 1 | 326 | 0.0031 | 0 | c.346 others(4): Show |
p.Ter others(12): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 25/25 | 3757/5092 | 3463/3465 | 1155/1154 | chr1 | TogoVar | ||
| KIR2DL3_chr19_54733513_54758052 | 54752517 | T | A | stop_lost | HIGH | HG02145.hp1 HG02976.hp2 HG03130.hp2 others(6): Show |
a0000a0011 | a0000c0006a0000c0010a0000c0014others(2): Show | a0000c0006t0005a0000c0010t0006a0000c0014t0019others(2): Show | a0000c0006t0005g0056a0000c0006t0005g0057a0000c0006t0005g0058others(6): Show | 9 | 312 | 0.0289 | 0 | c.102 others(4): Show |
p.Ter others(11): Show |
KIR2DL3 | ENSG00000243772.8 | transcript | ENST00000342376.4 | protein_coding | 8/8 | 1057/1592 | 1024/1026 | 342/341 | chr19 | TogoVar | ||
| KIR3DL1_chr19_54811468_54835778 | 54830273 | T | C | stop_lost | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 0 | c.133 others(4): Show |
p.Ter others(11): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1366/1871 | 1333/1335 | 445/444 | chr19 | 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 | ||
| KLK10_chr19_51007739_51024709 | 51014781 | CTGGAGCG others(16): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00738.hp1 NA20752.hp1 |
a0000 | a0000c0008 | a0000c0008t0020 | a0000c0008t0020g0055 | 2 | 450 | 0.0044 | -23 | c.827 others(30): Show |
p.Asn others(5): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 6/6 | 941/2984 | 827/831 | 276/276 | chr19 | TogoVar | ||
| KMO_chr1_241527378_241600642 | 241592151 | T | C | stop_lost | HIGH | HG01884.hp2 | a0000 | a0000c0016 | a0000c0016t0002 | a0000c0016t0002g0040 | 1 | 422 | 0.0024 | 0 | c.145 others(4): Show |
p.Ter others(11): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 15/15 | 1526/5017 | 1459/1461 | 487/486 | chr1 | TogoVar | ||
| KNCN_chr1_46540641_46556647 | 46547732 | A | G | stop_lost | HIGH | HG02572.hp1 HG02922.hp1 |
a0000 | a0000c0005 | a0000c0005t0017 | a0000c0005t0017g0023 | 2 | 414 | 0.0048 | 0 | c.373 others(3): Show |
p.Ter others(11): Show |
KNCN | ENSG00000162456.10 | transcript | ENST00000481882.7 | protein_coding | 4/4 | 805/2896 | 373/375 | 125/124 | chr1 | TogoVar | ||
| KNSTRN_chr15_40377721_40399288 | 40393596 | A | C | stop_lost | HIGH | HG02083.hp2 NA18972.hp1 |
a0000 | a0000c0005 | a0000c0005t0001 | a0000c0005t0001g0002 | 2 | 374 | 0.0054 | 0 | c.950 others(3): Show |
p.Ter others(11): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 9/9 | 1065/1757 | 950/951 | 317/316 | chr15 | TogoVar | ||
| KPRP_chr1_152753025_152767056 | 152761321 | A | AT | frameshift_variant others(1): Show |
HIGH | HG02615.hp2 HG02622.hp1 HG02896.hp1 others(3): Show |
a0000 | a0000c0008 | a0000c0008t0002 | a0000c0008t0002g0001 | 6 | 428 | 0.0140 | 1 | c.173 others(5): Show |
p.Ter others(5): Show |
KPRP | ENSG00000203786.7 | transcript | ENST00000606109.2 | protein_coding | 2/2 | 1802/2531 | 1739/1740 | 580/579 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| KRTAP10-4_chr21_44568729_44580371 | 44574964 | A | C | stop_lost | HIGH | HG01081.hp2 HG01243.hp2 HG01256.hp1 others(32): Show |
a0000 | a0000c0011a0000c0012a0000c0014others(16): Show | a0000c0011t0005a0000c0011t0006a0000c0012t0005others(17): Show | a0000c0011t0005g0000a0000c0011t0006g0000a0000c0012t0005g0000others(17): Show | 35 | 476 | 0.0735 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 1236/1643 | 1206/1206 | 402/401 | chr21 | TogoVar | ||
| KRTAP2-2_chr17_41049498_41060230 | 41054804 | GGACTGCA others(68): Show |
G | stop_lost others(1): Show |
HIGH | HG03579.hp1 | a0000 | a0000c0017 | a0000c0017t0007 | a0000c0017t0007g0000 | 1 | 411 | 0.0024 | -75 | c.333 others(82): Show |
p.Pro others(19): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 426/733 | 333/372 | 111/123 | chr17 | TogoVar | ||
| KRTAP24-1_chr21_30276309_30287950 | 30282095 | ATTAGACG others(72): Show |
A | frameshift_variant others(1): Show |
HIGH | NA19004.hp1 | a0000 | a0000c0005 | a0000c0005t0009 | a0000c0005t0009g0000 | 1 | 452 | 0.0022 | -79 | c.759 others(86): Show |
p.Cys others(5): Show |
KRTAP24-1 | ENSG00000188694.6 | transcript | ENST00000340345.6 | protein_coding | 1/1 | 855/1642 | 759/765 | 253/254 | chr21 | TogoVar | ||
| KRTAP9-2_chr17_41221648_41232652 | 41227018 | TACCCCAC others(5627): Show |
T | frameshift_variant others(4): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0000 | 11 | 437 | 0.0252 | -5634 | c.365 others(9): Show |
p.Tyr others(5): Show |
KRTAP9-2 | ENSG00000239886.5 | transcript | ENST00000377721.3 | protein_coding | 1/1 | 372/1005 | 365/525 | 122/174 | 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 | ||
| KRTAP9-6_chr17_41260378_41270860 | 41265463 | TGACCACC others(5390): Show |
T | frameshift_variant others(2): Show |
HIGH | NA18987.hp2 | a0000 | a0000c0006 | a0000c0006t0000 | a0000c0006t0000g0000 | 1 | 248 | 0.0040 | -5397 | c.87_ others(8): Show |
p.Val others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 87/483 | 87/483 | 29/160 | chr17 | TogoVar | ||
| KRTAP9-6_chr17_41260378_41270860 | 41265523 | AGCCTTAC others(5330): Show |
A | frameshift_variant others(2): Show |
HIGH | NA19063.hp2 | a0000 | a0000c0007 | a0000c0007t0000 | a0000c0007t0000g0000 | 1 | 248 | 0.0040 | -5337 | c.147 others(9): Show |
p.Gln others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 147/483 | 147/483 | 49/160 | chr17 | TogoVar | ||
| KRTAP9-6_chr17_41260378_41270860 | 41265595 | CCAGCTGC others(5258): Show |
C | frameshift_variant others(2): Show |
HIGH | HG01261.hp2 | a0000 | a0000c0009 | a0000c0009t0000 | a0000c0009t0000g0000 | 1 | 248 | 0.0040 | -5265 | c.219 others(9): Show |
p.Thr others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 219/483 | 219/483 | 73/160 | chr17 | TogoVar | ||
| LAIR2_chr19_54497831_54515687 | 54510567 | T | A | stop_lost | HIGH | HG01081.hp1 HG03831.hp1 HG04204.hp2 |
a0000 | a0000c0007 | a0000c0007t0001 | a0000c0007t0001g0059a0000c0007t0001g0100 | 3 | 475 | 0.0063 | 0 | c.457 others(3): Show |
p.Ter others(11): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 5/5 | 545/665 | 457/459 | 153/152 | chr19 | TogoVar | ||
| LCE1D_chr1_152791721_152803181 | 152798137 | T | G | stop_lost | HIGH | HG00609.hp1 HG01975.hp1 HG02083.hp1 others(14): Show |
a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0002a0000c0003t0001g0009 | 17 | 380 | 0.0447 | 0 | c.343 others(3): Show |
p.Ter others(11): Show |
LCE1D | ENSG00000172155.10 | transcript | ENST00000326233.7 | protein_coding | 2/2 | 416/460 | 343/345 | 115/114 | chr1 | TogoVar | ||
| LDHAL6A_chr11_18450856_18484601 | 18478866 | TTTAAAGT others(40): Show |
T | frameshift_variant others(1): Show |
HIGH | HG03017.hp1 | a0000 | a0000c0004 | a0000c0004t0053 | a0000c0004t0053g0015 | 1 | 420 | 0.0024 | -47 | c.999 others(54): Show |
p.Ter others(5): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 7/7 | 1824/2555 | 999/999 | 333/332 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| LIG1_chr19_48110445_48175344 | 48115647 | GCTTAGTA others(56): Show |
G | stop_lost others(1): Show |
HIGH | NA18985.hp1 | a0000 | a0000c0013 | a0000c0013t0007 | a0000c0013t0007g0182 | 1 | 330 | 0.0030 | -63 | c.269 others(70): Show |
p.Gln others(19): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 28/28 | 2922/3125 | 2699/2760 | 900/919 | chr19 | TogoVar | ||
| LRRC53_chr1_74464376_74517611 | 74469879 | T | A | stop_lost | HIGH | NA19002.hp1 NA19057.hp2 |
a0000 | a0000c0013 | a0000c0013t0001 | a0000c0013t0001g0134a0000c0013t0001g0162 | 2 | 342 | 0.0059 | 0 | c.374 others(4): Show |
p.Ter others(12): Show |
LRRC53 | ENSG00000162621.7 | transcript | ENST00000294635.5 | protein_coding | 5/5 | 3855/4358 | 3743/3744 | 1248/1247 | chr1 | TogoVar | ||
| MAGEB6_chrX_26187440_26200646 | 26195068 | T | G | stop_lost | HIGH | HG01168.hp2 | a0000 | a0000c0011 | a0000c0011t0001 | a0000c0011t0001g0001 | 1 | 320 | 0.0031 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
MAGEB6 | ENSG00000176746.6 | transcript | ENST00000379034.1 | protein_coding | 2/2 | 1371/1949 | 1222/1224 | 408/407 | chrX | TogoVar | ||
| MCM5_chr22_35395140_35430431 | 35424253 | T | C | stop_lost | HIGH | NA18959.hp1 | a0000 | a0000c0014 | a0000c0014t0001 | a0000c0014t0001g0041 | 1 | 404 | 0.0025 | 0 | c.220 others(4): Show |
p.Ter others(11): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 17/17 | 2280/3458 | 2203/2205 | 735/734 | chr22 | TogoVar | ||
| MNS1_chr15_56423724_56470137 | 56429101 | T | C | stop_lost | HIGH | HG00609.hp2 | a0000 | a0000c0010 | a0000c0010t0001 | a0000c0010t0001g0222 | 1 | 414 | 0.0024 | 0 | c.148 others(4): Show |
p.Ter others(11): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 10/10 | 1653/2030 | 1488/1488 | 496/495 | chr15 | TogoVar | ||
| MNS1_chr15_56423724_56470137 | 56429102 | C | A | stop_lost | HIGH | HG03486.hp2 | a0000 | a0000c0011 | a0000c0011t0001 | a0000c0011t0001g0167 | 1 | 414 | 0.0024 | 0 | c.148 others(4): Show |
p.Ter others(11): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 10/10 | 1652/2030 | 1487/1488 | 496/495 | chr15 | TogoVar | ||
| MRPL23_chr11_1942332_1961600 | 1956376 | AGCGACCC others(56): Show |
A | stop_lost others(1): Show |
HIGH | NA19079.hp2 | a0000 | a0000c0006 | a0000c0006t0006 | a0000c0006t0006g0019 | 1 | 401 | 0.0025 | -63 | c.422 others(70): Show |
p.Asp others(19): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 5/5 | 453/673 | 422/462 | 141/153 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MSLN_chr16_755734_773862 | 768731 | T | A | stop_lost | HIGH | HG01192.hp2 | a0000 | a0000c0039 | a0000c0039t0008 | a0000c0039t0008g0146 | 1 | 388 | 0.0026 | 0 | c.186 others(4): Show |
p.Ter others(11): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 18/18 | 2066/2197 | 1867/1869 | 623/622 | chr16 | TogoVar | ||
| MSLN_chr16_755734_773862 | 768732 | GAGGGCCC others(19): Show |
G | frameshift_variant others(1): Show |
HIGH | HG01192.hp2 | a0000 | a0000c0039 | a0000c0039t0008 | a0000c0039t0008g0146 | 1 | 388 | 0.0026 | -26 | c.186 others(34): Show |
p.Ter others(5): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 18/18 | 2068/2197 | 1869/1869 | 623/622 | chr16 | TogoVar | ||
| NANOGP8_chr15_35078410_35090295 | 35084193 | TCA | T | frameshift_variant others(1): Show |
HIGH | HG01099.hp2 HG01167.hp2 HG01169.hp1 others(13): Show |
a0000 | a0000c0005 | a0000c0005t0006a0000c0005t0044a0000c0005t0049 | a0000c0005t0006g0000a0000c0005t0044g0000a0000c0005t0049g0000 | 16 | 476 | 0.0336 | -2 | c.916 others(9): Show |
p.Ter others(5): Show |
NANOGP8 | ENSG00000255192.7 | transcript | ENST00000528386.4 | protein_coding | 1/1 | 1102/1886 | 916/918 | 306/305 | chr15 | TogoVar | ||
| NAT9_chr17_74765529_74781345 | 74771724 | T | A | stop_lost | HIGH | HG01515.hp2 | a0000 | a0000c0008 | a0000c0008t0012 | a0000c0008t0012g0046 | 1 | 386 | 0.0026 | 0 | c.624 others(3): Show |
p.Ter others(11): Show |
NAT9 | ENSG00000109065.12 | transcript | ENST00000357814.8 | protein_coding | 7/7 | 712/1907 | 624/624 | 208/207 | chr17 | TogoVar | ||
| NDRG2_chr14_21011772_21030061 | 21017597 | C | G | stop_lost | HIGH | NA18987.hp2 | a0000 | a0000c0007 | a0000c0007t0026 | a0000c0007t0026g0154 | 1 | 480 | 0.0021 | 0 | c.111 others(4): Show |
p.Ter others(11): Show |
NDRG2 | ENSG00000165795.25 | transcript | ENST00000556147.6 | protein_coding | 16/16 | 2153/2978 | 1115/1116 | 372/371 | chr14 | TogoVar | ||
| NDRG2_chr14_21011772_21030061 | 21017598 | A | C | stop_lost | HIGH | NA18987.hp2 | a0000 | a0000c0007 | a0000c0007t0026 | a0000c0007t0026g0154 | 1 | 480 | 0.0021 | 0 | c.111 others(4): Show |
p.Ter others(11): Show |
NDRG2 | ENSG00000165795.25 | transcript | ENST00000556147.6 | protein_coding | 16/16 | 2152/2978 | 1114/1116 | 372/371 | chr14 | TogoVar | ||
| NDUFAF8_chr17_81234318_81246310 | 81240977 | TATCTTGC others(37): Show |
T | stop_lost others(2): Show |
HIGH | HG03540.hp2 | a0000 | a0000c0004 | a0000c0004t0006 | a0000c0004t0006g0031 | 1 | 288 | 0.0035 | -44 | c.196 others(52): Show |
NDUFAF8 | ENSG00000224877.4 | transcript | ENST00000431388.3 | protein_coding | 3/3 | 196/225 | 66/74 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||
| NEU4_chr2_241804193_241822413 | 241817031 | TGCTGCTG others(50): Show |
T | stop_lost others(1): Show |
HIGH | HG01515.hp2 | a0000 | a0000c0011 | a0000c0011t0009 | a0000c0011t0009g0010 | 1 | 319 | 0.0031 | -57 | c.144 others(65): Show |
p.Cys others(13): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 4/4 | 1526/1905 | 1441/1455 | 481/484 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(251): Show |
a0000 | a0000c0001a0000c0002a0000c0003others(39): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(114): Show | a0000c0001t0001g0008a0000c0001t0001g0037a0000c0001t0001g0038others(241): Show | 254 | 350 | 0.7257 | 0 | c.314 others(4): Show |
p.Ter others(12): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 10/10 | 3218/3934 | 3147/3147 | 1049/1048 | chr19 | TogoVar |