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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H6PD_chr1_9229774_9276337 | 9244919 | CCCCAGGC others(1): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show |
a0001a0002a0017others(1): Show | a0001c0001a0001c0004a0001c0020others(4): Show | a0001c0001t0008a0001c0001t0022a0001c0004t0005others(11): Show | a0001c0001t0008g0002a0001c0001t0008g0049a0001c0001t0008g0253others(28): Show | 40 | 404 | 0.0990 | -8 | c.-7_ others(12): Show |
p.Met others(3): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 2/5 | 297/9147 | 1/2376 | 1/791 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
HBZ_chr16_147644_159503 | 153236 | GTTCCCTC others(6260): Show |
G | exon_loss_variant | HIGH | HG01433.hp2 | a0000 | a0000c0005 | a0000c0005t0005 | a0000c0005t0005g0054 | 1 | 432 | 0.0023 | -6267 | c.95+ others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112185241 | G | GC | frameshift_variant | HIGH | HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show |
a0002a0008 | a0002c0004a0002c0005a0002c0006others(2): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(6): Show | a0002c0004t0001g0155a0002c0004t0003g0008a0002c0004t0003g0015others(19): Show | 22 | 270 | 0.0815 | 1 | c.972 others(5): Show |
p.Ala others(6): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 61/76 | 10027/15752 | 9724/13257 | 3242/4418 | chr12 | TogoVar | ||
HNRNPA1L2_chr13_52637431_52648773 | 52643320 | GA | G | frameshift_variant | HIGH | HG01255.hp2 HG01256.hp2 HG01361.hp2 others(3): Show |
a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0000 | 6 | 436 | 0.0138 | -1 | c.830 others(4): Show |
p.Lys others(5): Show |
HNRNPA1L2 | ENSG00000139675.13 | transcript | ENST00000357495.5 | protein_coding | 1/1 | 892/1343 | 830/963 | 277/320 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
HNRNPCL4_chr1_13158914_13170631 | 13164682 | CT | C | frameshift_variant | HIGH | HG01433.hp1 HG01433.hp2 NA18954.hp2 others(2): Show |
a0003 | a0003c0005a0003c0009 | a0003c0005t0001a0003c0009t0001 | a0003c0005t0001g0000a0003c0009t0001g0000 | 5 | 215 | 0.0233 | -1 | c.785 others(4): Show |
p.Gln others(5): Show |
HNRNPCL4 | ENSG00000179412.11 | transcript | ENST00000323770.8 | protein_coding | 1/1 | 949/1718 | 785/882 | 262/293 | chr1 | 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 | |||||
HP_chr16_72049505_72066055 | 72057480 | ACTGAGCA others(1708): Show |
A | exon_loss_variant | HIGH | HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0008 | a0003c0003t0002g0004a0003c0003t0002g0035a0003c0003t0002g0040others(6): Show | 58 | 425 | 0.1365 | -1715 | c.265 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | 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 | ||
HYAL4_chr7_123840169_123882481 | 123868274 | A | G | start_lost | HIGH | HG00544.hp2 HG01123.hp2 HG01192.hp1 others(28): Show |
a0002 | a0002c0002a0002c0005a0002c0013others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0015a0002c0002t0001g0016a0002c0002t0001g0017others(19): Show | 31 | 394 | 0.0787 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 3/5 | 639/2410 | 1/1446 | 1/481 | chr7 | 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 | ||
IL17RB_chr3_53841568_53870794 | 53865249 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001a0002c0007t0006others(1): Show | a0002c0005t0001g0006a0002c0005t0001g0027a0002c0005t0001g0028others(33): Show | 54 | 450 | 0.1200 | 0 | c.145 others(4): Show |
p.Gln others(4): Show |
IL17RB | ENSG00000056736.10 | transcript | ENST00000288167.8 | protein_coding | 11/11 | 1471/2016 | 1450/1509 | 484/502 | chr3 | 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 | ||
IRS2_chr13_109747695_109791583 | 109782805 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp2 HG00741.hp1 others(24): Show |
a0003a0004 | a0003c0008a0003c0010a0003c0012others(2): Show | a0003c0008t0002a0003c0008t0004a0003c0008t0009others(11): Show | a0003c0008t0002g0130a0003c0008t0002g0131a0003c0008t0002g0133others(24): Show | 27 | 398 | 0.0678 | 1 | c.324 others(5): Show |
p.Pro others(6): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/2 | 3778/8156 | 3248/4017 | 1083/1338 | chr13 | 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 | |
KANK1_chr9_499695_751103 | 732434 | C | G | stop_gained | HIGH | HG01433.hp1 | a0028 | a0028c0056 | a0028c0056t0003 | a0028c0056t0003g0035 | 1 | 254 | 0.0039 | 0 | c.306 others(4): Show |
p.Ser others(5): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 6/12 | 3205/5070 | 3062/4059 | 1021/1352 | chr9 | TogoVar | ||
KCNMB3_chr3_179237771_179256114 | 179242978 | CT | C | frameshift_variant | HIGH | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(31): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0002a0003c0003t0002g0016a0003c0003t0002g0024others(5): Show | 34 | 370 | 0.0919 | -1 | c.753 others(4): Show |
p.Val others(5): Show |
KCNMB3 | ENSG00000171121.17 | transcript | ENST00000392685.7 | protein_coding | 3/3 | 877/1085 | 753/828 | 251/275 | chr3 | 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 | ||
KDM2B_chr12_121424096_121586023 | 121509791 | TAGACAAA others(12): Show |
T | frameshift_variant | HIGH | HG01433.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0238 | 1 | 270 | 0.0037 | -19 | c.140 others(28): Show |
p.Phe others(5): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 11/23 | 1534/5315 | 1404/4011 | 468/1336 | chr12 | 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 | |||||
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 | |
KIR3DL1_chr19_54811468_54835778 | 54829458 | C | CA | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 1 | c.110 others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KIR3DL1_chr19_54811468_54835778 | 54829965 | AAC | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | -2 | c.114 others(11): Show |
p.Thr others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 8/9 | 1178/1871 | 1145/1335 | 382/444 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
KIR3DL1_chr19_54811468_54835778 | 54830138 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 0 | c.119 others(4): Show |
p.Gln others(4): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1231/1871 | 1198/1335 | 400/444 | 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 | ||
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 | ||
KRT3_chr12_52784685_52801117 | 52790835 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00323.hp1 HG00642.hp1 HG00733.hp2 others(11): Show |
a0002a0003a0005 | a0002c0002a0003c0005a0005c0007 | a0002c0002t0001a0003c0005t0001a0005c0007t0001 | a0002c0002t0001g0006a0002c0002t0001g0042a0003c0005t0001g0068others(1): Show | 14 | 454 | 0.0308 | 1 | c.157 others(7): Show |
KRT3 | ENSG00000186442.7 | transcript | ENST00000417996.2 | protein_coding | 8/8 | chr12 | 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 | 41097995 | A | T | stop_gained | HIGH | HG00140.hp1 HG01433.hp1 HG02738.hp1 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0000 | 4 | 416 | 0.0096 | 0 | c.90T others(2): Show |
p.Cys others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 148/1162 | 90/558 | 30/185 | 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 | ||
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 | ||
LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0000a0002a0003others(1): Show | a0000c0004a0000c0029a0000c0030others(9): Show | a0000c0004t0001a0000c0004t0006a0000c0029t0001others(11): Show | a0000c0004t0001g0039a0000c0004t0001g0050a0000c0004t0001g0106others(48): Show | 52 | 314 | 0.1656 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2434/5144 | 2175/4383 | 725/1460 | chr19 | TogoVar | ||
LMTK3_chr19_48480271_48516835 | 48499794 | T | TG | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00621.hp1 others(8): Show |
a0003a0010 | a0003c0008a0003c0009a0003c0039others(1): Show | a0003c0008t0001a0003c0009t0001a0003c0039t0001others(1): Show | a0003c0008t0001g0082a0003c0008t0001g0094a0003c0008t0001g0157others(8): Show | 11 | 314 | 0.0350 | 1 | c.127 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 1533/5144 | 1274/4383 | 425/1460 | chr19 | TogoVar | ||
LRRC58_chr3_120319509_120354354 | 120349126 | G | GGGCCGCA others(27): Show |
frameshift_variant | HIGH | HG01433.hp2 | a0004 | a0004c0011 | a0004c0011t0062 | a0004c0011t0062g0192 | 1 | 376 | 0.0027 | 34 | c.117 others(41): Show |
p.Arg others(4): Show |
LRRC58 | ENSG00000163428.4 | transcript | ENST00000295628.4 | protein_coding | 1/4 | 228/7918 | 117/1116 | 39/371 | chr3 | 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 | ||
MICA_chr6_31398595_31420315 | 31412380 | TGCTG | T | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show |
a0000 | a0000c0008a0000c0009a0000c0012others(2): Show | a0000c0008t0004a0000c0009t0005a0000c0012t0004others(2): Show | a0000c0008t0004g0008a0000c0008t0004g0067a0000c0008t0004g0068others(21): Show | 46 | 439 | 0.1048 | -4 | c.953 others(11): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MROH2B_chr5_40993020_41076342 | 41061613 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(95): Show |
a0002a0006a0009others(8): Show | a0002c0004a0002c0027a0002c0029others(17): Show | a0002c0004t0002a0002c0027t0002a0002c0029t0002others(17): Show | a0002c0004t0002g0002a0002c0004t0002g0004a0002c0004t0002g0011others(89): Show | 98 | 396 | 0.2475 | 0 | c.572 others(3): Show |
p.Trp others(4): Show |
MROH2B | ENSG00000171495.17 | transcript | ENST00000399564.5 | protein_coding | 6/42 | 1062/5280 | 572/4758 | 191/1585 | chr5 | TogoVar | ||
MRPL36_chr5_1793385_1804837 | 1799789 | T | TACCCGGC others(11): Show |
splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0031others(2): Show | 85 | 432 | 0.1968 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | chr5 | 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 | ||||||
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 |