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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFNL2_chr19_39263396_39275188 | 39269972 | C | T | stop_gained | HIGH | NA21309.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0016 | 1 | 422 | 0.0024 | 0 | c.562 others(3): Show |
p.Arg others(4): Show |
IFNL2 | ENSG00000183709.8 | transcript | ENST00000331982.6 | protein_coding | 6/6 | 735/951 | 562/603 | 188/200 | chr19 | TogoVar | ||
IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 32 | 432 | 0.0741 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | |||||
IL9R_chrX_155992696_156015817 | 156009833 | C | CG | frameshift_variant | HIGH | NA21309.hp2 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0034 | 1 | 220 | 0.0046 | 1 | c.994 others(4): Show |
p.Ala others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1059/2038 | 995/1566 | 332/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156009942 | T | TG | frameshift_variant | HIGH | NA21309.hp2 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0034 | 1 | 220 | 0.0046 | 1 | c.110 others(5): Show |
p.Lys others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1166/2038 | 1102/1566 | 368/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156009994 | CG | C | frameshift_variant | HIGH | NA21309.hp2 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0034 | 1 | 220 | 0.0046 | -1 | c.115 others(5): Show |
p.Asn others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1219/2038 | 1155/1566 | 385/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156010007 | C | CT | frameshift_variant | HIGH | NA21309.hp2 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0034 | 1 | 220 | 0.0046 | 1 | c.116 others(5): Show |
p.Ser others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1230/2038 | 1166/1566 | 389/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156010109 | TC | T | frameshift_variant | HIGH | NA21309.hp2 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0034 | 1 | 220 | 0.0046 | -1 | c.127 others(5): Show |
p.Pro others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1335/2038 | 1271/1566 | 424/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IQCA1L_chr7_151185873_151210496 | 151195597 | TC | T | frameshift_variant | HIGH | HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show |
a0002a0005a0008others(8): Show | a0002c0003a0002c0012a0002c0015others(26): Show | a0002c0003t0001a0002c0012t0001a0002c0015t0001others(26): Show | a0002c0003t0001g0007a0002c0003t0001g0023a0002c0003t0001g0026others(80): Show | 132 | 448 | 0.2946 | -1 | c.137 others(5): Show |
p.Glu others(5): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 11/19 | 1417/2606 | 1375/2457 | 459/818 | chr7 | TogoVar | ||
KAT2A_chr17_42108111_42126367 | 42118011 | ACTGAAGC others(32): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG02615.hp2 HG02976.hp1 HG03098.hp2 others(10): Show |
a0002 | a0002c0002a0002c0014 | a0002c0002t0001a0002c0002t0002a0002c0014t0001 | a0002c0002t0001g0057a0002c0002t0002g0007a0002c0002t0002g0018others(2): Show | 13 | 354 | 0.0367 | -39 | c.118 others(51): Show |
p.Ala others(13): Show |
KAT2A | ENSG00000108773.11 | transcript | ENST00000225916.10 | protein_coding | 8/18 | 1249/3115 | 1181/2514 | 394/837 | chr17 | 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 | |
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 | ||
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 | ||
KLHL24_chr3_183630623_183689519 | 183635795 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01069.hp2 HG01071.hp2 HG01175.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0021a0001c0001t0035others(6): Show | a0001c0001t0009g0039a0001c0001t0009g0040a0001c0001t0009g0041others(22): Show | 26 | 312 | 0.0833 | 0 | c.-12 others(6): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 1/7 | chr3 | 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 | |||||
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 | ||
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 | ||
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 | ||
LAMB4_chr7_108018553_108135361 | 108116162 | C | G | splice_acceptor_variant others(1): Show |
HIGH | NA21309.hp2 | a0039 | a0039c0032 | a0039c0032t0002 | a0039c0032t0002g0287 | 1 | 292 | 0.0034 | 0 | c.35- others(4): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 2/33 | chr7 | TogoVar | ||||||
LCN10_chr9_136733170_136747940 | 136740043 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(83): Show |
a0002a0005a0006 | a0002c0002a0005c0006a0006c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(6): Show | a0002c0002t0002g0002a0002c0002t0002g0017a0002c0002t0002g0051others(12): Show | 86 | 392 | 0.2194 | 0 | c.481 others(3): Show |
p.Gln others(4): Show |
LCN10 | ENSG00000187922.14 | transcript | ENST00000497771.6 | protein_coding | 5/6 | 518/1995 | 481/603 | 161/200 | chr9 | 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 | ||
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 | ||
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 | ||
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 | |
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 | ||
MEI1_chr22_41694503_41804454 | 41699535 | G | GGA | frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02280.hp1 HG02559.hp1 others(22): Show |
a0001a0009 | a0001c0004a0001c0008a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0006a0001c0008t0003others(3): Show | a0001c0004t0003g0039a0001c0004t0003g0040a0001c0004t0003g0041others(22): Show | 25 | 260 | 0.0962 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 1/31 | 38/4016 | 2/3825 | 1/1274 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
MGAM2_chr7_142106718_142227324 | 142134141 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG03710.hp1 HG03927.hp2 others(5): Show |
a0006 | a0006c0033a0006c0034a0006c0079others(3): Show | a0006c0033t0001a0006c0034t0001a0006c0079t0001others(3): Show | a0006c0033t0001g0132a0006c0033t0001g0155a0006c0034t0001g0135others(5): Show | 8 | 329 | 0.0243 | 1 | c.741 others(4): Show |
p.Thr others(5): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 7/48 | 832/7903 | 742/7548 | 248/2515 | INFO_REALIGN_3_PRIME | chr7 | 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 | ||
MOK_chr14_102223836_102310164 | 102263544 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG01099.hp1 HG01257.hp1 others(13): Show |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0004a0002c0006t0006 | a0002c0006t0002g0002a0002c0006t0002g0050a0002c0006t0002g0051others(12): Show | 16 | 252 | 0.0635 | 0 | c.283 others(5): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3217508 | CCCACCTA others(5341): Show |
C | transcript_ablation | HIGH | HG00735.hp2 HG00741.hp1 HG01109.hp1 others(6): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 9 | 426 | 0.0211 | -5348 | c.-40 others(10): Show |
p.0? | MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1/1 | chr11 | TogoVar | |||||
MRGPRX3_chr11_18127571_18143488 | 18138122 | G | A | stop_gained | HIGH | HG00733.hp1 HG00741.hp1 HG00741.hp2 others(13): Show |
a0005a0010 | a0005c0007a0010c0012 | a0005c0007t0002a0010c0012t0002 | a0005c0007t0002g0003a0005c0007t0002g0025a0005c0007t0002g0035others(2): Show | 16 | 440 | 0.0364 | 0 | c.920 others(3): Show |
p.Trp others(4): Show |
MRGPRX3 | ENSG00000179826.8 | transcript | ENST00000621697.2 | protein_coding | 2/2 | 1114/1480 | 920/969 | 307/322 | chr11 | TogoVar | ||
MROH6_chr8_143561192_143577772 | 143567877 | G | C | stop_gained | HIGH | NA21309.hp2 | a0017 | a0017c0046 | a0017c0046t0018 | a0017c0046t0018g0077 | 1 | 437 | 0.0023 | 0 | c.177 others(4): Show |
p.Tyr others(4): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 12/14 | 1834/3265 | 1776/2160 | 592/719 | chr8 | TogoVar | ||
MRPL42_chr12_93462514_93521214 | 93479377 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02257.hp1 HG02572.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0137a0001c0001t0138others(2): Show | a0001c0001t0023g0026a0001c0001t0023g0163a0001c0001t0023g0165others(4): Show | 7 | 388 | 0.0180 | 1 | c.135 others(6): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0004g0012others(6): Show | 169 | 436 | 0.3876 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | 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 | ||
MT1G_chr16_56661730_56673065 | 56667382 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0002g0002others(4): Show | 128 | 470 | 0.2723 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
MTCH1_chr6_36963141_36991196 | 36986143 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG04115.hp1 NA18747.hp2 others(13): Show |
a0002 | a0002c0004a0002c0008 | a0002c0004t0001a0002c0008t0001 | a0002c0004t0001g0008a0002c0004t0001g0039a0002c0004t0001g0180others(3): Show | 16 | 414 | 0.0387 | -1 | c.30d others(3): Show |
p.Trp others(4): Show |
MTCH1 | ENSG00000137409.21 | transcript | ENST00000373627.10 | protein_coding | 1/12 | 53/1955 | 30/1170 | 10/389 | chr6 | TogoVar | ||
MYO15B_chr17_75582800_75631849 | 75588737 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show |
a0003a0015a0050others(1): Show | a0003c0008a0003c0024a0003c0025others(28): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(28): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(37): Show | 42 | 384 | 0.1094 | 1 | c.684 others(4): Show |
p.Pro others(5): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 943/9914 | 685/9291 | 229/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
MYO15B_chr17_75582800_75631849 | 75589275 | G | A | stop_gained | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(34): Show |
a0003a0050 | a0003c0008a0003c0024a0003c0025others(24): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(24): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(33): Show | 37 | 384 | 0.0964 | 0 | c.121 others(4): Show |
p.Trp others(4): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1476/9914 | 1218/9291 | 406/3096 | chr17 | 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 | ||
NAT1_chr8_18205109_18228689 | 18222606 | C | T | stop_gained | HIGH | HG02622.hp1 NA21309.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0014 | 2 | 482 | 0.0042 | 0 | c.559 others(3): Show |
p.Arg others(4): Show |
NAT1 | ENSG00000171428.15 | transcript | ENST00000307719.9 | protein_coding | 3/3 | 716/1799 | 559/873 | 187/290 | chr8 | TogoVar | ||
NBPF11_chr1_148097151_148157281 | 148105470 | C | CATCT | frameshift_variant | HIGH | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
a0000a0002 | a0000c0002a0000c0003a0000c0004others(17): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0018others(25): Show | a0000c0002t0002g0001a0000c0002t0002g0007a0000c0002t0002g0008others(145): Show | 156 | 388 | 0.4021 | 4 | c.236 others(13): Show |
p.Val others(5): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 22/24 | 3441/5423 | 2361/2598 | 787/865 | chr1 | TogoVar | ||
NBPF9_chr1_149047186_149108551 | 149058873 | CCTATCTG others(3161): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(95): Show |
a0003a0004a0005others(11): Show | a0003c0003a0004c0004a0004c0008others(14): Show | a0003c0003t0002a0003c0003t0020a0003c0003t0039others(39): Show | a0003c0003t0002g0012a0003c0003t0002g0243a0003c0003t0002g0244others(91): Show | 98 | 344 | 0.2849 | -3168 | c.225 others(15): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 26/30 | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149082076 | C | A | stop_gained | HIGH | NA21309.hp1 | a0021 | a0021c0047 | a0021c0047t0079 | a0021c0047t0079g0264 | 1 | 344 | 0.0029 | 0 | c.64G others(2): Show |
p.Glu others(3): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 7/30 | 1157/7899 | 64/3336 | 22/1111 | chr1 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0009others(33): Show | a0002c0003a0002c0022a0002c0054others(42): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(52): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(144): Show | 149 | 428 | 0.3481 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382409 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | NA21309.hp1 | a0081 | a0081c0115 | a0081c0115t0002 | a0081c0115t0002g0338 | 1 | 428 | 0.0023 | 13 | c.252 others(22): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5269/6369 | 2522/3486 | 841/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383167 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0002a0009a0026others(14): Show | a0002c0003a0002c0022a0002c0054others(20): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(25): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(71): Show | 74 | 428 | 0.1729 | 1 | c.176 others(5): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4511/6369 | 1764/3486 | 588/1161 | chr16 | TogoVar |