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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
HSD17B13_chr4_87298794_87327882 | 87310240 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show |
a0001a0006a0007 | a0001c0001a0006c0008a0007c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(71): Show | 96 | 442 | 0.2172 | 1 | c.812 others(6): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
HSFX2_chrX_149587512_149600314 | 149592642 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0007 | a0007c0019 | a0007c0019t0007 | a0007c0019t0007g0028 | 1 | 279 | 0.0036 | -1 | c.122 others(5): Show |
p.Ala others(5): Show |
HSFX2 | ENSG00000268738.3 | transcript | ENST00000598963.3 | protein_coding | 2/2 | 1835/1966 | 1221/1272 | 407/423 | chrX | TogoVar | ||
HSFX2_chrX_149587512_149600314 | 149592980 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0007 | a0007c0019 | a0007c0019t0007 | a0007c0019t0007g0028 | 1 | 279 | 0.0036 | 1 | c.883 others(4): Show |
p.Ala others(5): Show |
HSFX2 | ENSG00000268738.3 | transcript | ENST00000598963.3 | protein_coding | 2/2 | 1497/1966 | 883/1272 | 295/423 | chrX | TogoVar | ||
HSFX2_chrX_149587512_149600314 | 149593268 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0007 | a0007c0019 | a0007c0019t0007 | a0007c0019t0007g0028 | 1 | 279 | 0.0036 | -1 | c.595 others(4): Show |
p.Arg others(5): Show |
HSFX2 | ENSG00000268738.3 | transcript | ENST00000598963.3 | protein_coding | 2/2 | 1209/1966 | 595/1272 | 199/423 | chrX | TogoVar | ||
HSFX2_chrX_149587512_149600314 | 149594177 | C | CG | frameshift_variant | HIGH | NA19075.hp1 | a0007 | a0007c0019 | a0007c0019t0007 | a0007c0019t0007g0028 | 1 | 279 | 0.0036 | 1 | c.523 others(4): Show |
p.Arg others(5): Show |
HSFX2 | ENSG00000268738.3 | transcript | ENST00000598963.3 | protein_coding | 1/2 | 1137/1966 | 523/1272 | 175/423 | chrX | TogoVar | ||
HSFX2_chrX_149587512_149600314 | 149594644 | TC | T | frameshift_variant | HIGH | NA19075.hp1 | a0007 | a0007c0019 | a0007c0019t0007 | a0007c0019t0007g0028 | 1 | 279 | 0.0036 | -1 | c.56d others(3): Show |
p.Gly others(4): Show |
HSFX2 | ENSG00000268738.3 | transcript | ENST00000598963.3 | protein_coding | 1/2 | 670/1966 | 56/1272 | 19/423 | chrX | 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 | ||
IL9R_chrX_155992696_156015817 | 156003514 | GC | G | frameshift_variant | HIGH | NA19075.hp1 | a0021 | a0021c0015 | a0021c0015t0008 | a0021c0015t0008g0121 | 1 | 220 | 0.0046 | -1 | c.212 others(4): Show |
p.Pro others(4): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 3/9 | 276/2038 | 212/1566 | 71/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156009833 | CG | C | frameshift_variant | HIGH | NA19075.hp1 | a0021 | a0021c0015 | a0021c0015t0008 | a0021c0015t0008g0121 | 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 | 1058/2038 | 994/1566 | 332/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156009936 | C | CA | frameshift_variant | HIGH | NA19075.hp1 | a0021 | a0021c0015 | a0021c0015t0008 | a0021c0015t0008g0121 | 1 | 220 | 0.0046 | 1 | c.109 others(10): Show |
p.Arg others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1158/2038 | 1094/1566 | 365/521 | chrX | TogoVar | ||
IL9R_chrX_155992696_156015817 | 156010101 | A | AG | frameshift_variant | HIGH | NA19075.hp1 | a0021 | a0021c0015 | a0021c0015t0008 | a0021c0015t0008g0121 | 1 | 220 | 0.0046 | 1 | c.126 others(5): Show |
p.Pro others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1325/2038 | 1261/1566 | 421/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156010190 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0021 | a0021c0015 | a0021c0015t0008 | a0021c0015t0008g0121 | 1 | 220 | 0.0046 | -1 | c.135 others(5): Show |
p.Gly others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1416/2038 | 1352/1566 | 451/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156010305 | GC | G | frameshift_variant | HIGH | NA19075.hp1 | a0021 | a0021c0015 | a0021c0015t0008 | a0021c0015t0008g0121 | 1 | 220 | 0.0046 | -1 | c.146 others(5): Show |
p.Trp others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1528/2038 | 1464/1566 | 488/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL9R_chrX_155992696_156015817 | 156010314 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0021 | a0021c0015 | a0021c0015t0008 | a0021c0015t0008g0121 | 1 | 220 | 0.0046 | -1 | c.147 others(5): Show |
p.Leu others(5): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 9/9 | 1536/2038 | 1472/1566 | 491/521 | chrX | 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 | |||||
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 | ||
KLF4_chr9_107479852_107494769 | 107487806 | C | CGAGGGGC others(28): Show |
frameshift_variant others(1): Show |
HIGH | NA19075.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0032 | 1 | 428 | 0.0023 | 35 | c.553 others(42): Show |
p.Gly others(5): Show |
KLF4 | ENSG00000136826.15 | transcript | ENST00000374672.5 | protein_coding | 3/5 | 1184/2936 | 587/1440 | 196/479 | chr9 | 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 | ||||||
KLRC2_chr12_10425599_10441010 | 10429008 | GTGATGCC others(11995): Show |
G | transcript_ablation | HIGH | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 63 | 425 | 0.1482 | -12002 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | 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 | ||
KRTAP2-2_chr17_41049498_41060230 | 41054892 | G | GGGGACTG others(98): Show |
stop_gained others(1): Show |
HIGH | HG02523.hp2 NA18969.hp2 NA19006.hp2 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0000 | 5 | 411 | 0.0122 | 105 | c.319 others(112): Show |
p.Ser others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 338/733 | 319/372 | 107/123 | chr17 | TogoVar | ||
KRTAP4-7_chr17_41079150_41090144 | 41084543 | A | AGCTGCTG others(159): Show |
frameshift_variant others(1): Show |
HIGH | NA19075.hp1 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0000 | 1 | 442 | 0.0023 | 166 | c.345 others(173): Show |
p.Arg others(5): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 1/1 | 403/995 | 346/468 | 116/155 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
LAD1_chr1_201375833_201404324 | 201385806 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0086 | 1 | 432 | 0.0023 | 0 | c.102 others(6): Show |
LAD1 | ENSG00000159166.15 | transcript | ENST00000391967.7 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
LAD1_chr1_201375833_201404324 | 201385807 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0086 | 1 | 432 | 0.0023 | 0 | c.102 others(6): Show |
LAD1 | ENSG00000159166.15 | transcript | ENST00000391967.7 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
LILRA2_chr19_54568790_54595287 | 54575464 | CCACGGGG others(6): Show |
C | frameshift_variant | HIGH | NA19075.hp2 | a0021 | a0021c0024 | a0021c0024t0001 | a0021c0024t0001g0070 | 1 | 427 | 0.0023 | -13 | c.865 others(20): Show |
p.His others(5): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 5/8 | 954/4482 | 865/1452 | 289/483 | chr19 | TogoVar | ||
LILRA2_chr19_54568790_54595287 | 54587200 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(65): Show |
a0001a0014a0017others(1): Show | a0001c0001a0014c0021a0017c0023others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0035others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0018a0001c0001t0003g0019others(14): Show | 68 | 427 | 0.1593 | 0 | c.130 others(6): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | ||
LPL_chr8_19934253_19972259 | 19962213 | C | G | stop_gained | HIGH | HG00323.hp1 HG01081.hp1 HG01358.hp1 others(31): Show |
a0002a0009 | a0002c0004a0002c0007a0002c0032others(3): Show | a0002c0004t0004a0002c0004t0025a0002c0007t0004others(4): Show | a0002c0004t0004g0005a0002c0004t0004g0020a0002c0004t0004g0022others(22): Show | 34 | 384 | 0.0885 | 0 | c.142 others(4): Show |
p.Ser others(4): Show |
LPL | ENSG00000175445.17 | transcript | ENST00000650287.1 | protein_coding | 9/10 | 1609/3565 | 1421/1428 | 474/475 | chr8 | TogoVar | ||
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0003a0007 | a0002c0002a0002c0003a0002c0010others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0010t0001others(3): Show | a0002c0002t0001g0000a0002c0003t0001g0000a0002c0010t0001g0000others(3): Show | 123 | 277 | 0.4440 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 561/2268 | 358/1572 | 120/523 | chrX | TogoVar | ||
MED14_chrX_40643305_40740542 | 40735353 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0015 | a0002c0015t0013 | a0002c0015t0013g0242 | 1 | 251 | 0.0040 | 1 | c.59d others(3): Show |
p.Ser others(4): Show |
MED14 | ENSG00000180182.11 | transcript | ENST00000324817.6 | protein_coding | 1/31 | 189/7996 | 59/4365 | 20/1454 | 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 | |
MICA_chr6_31398595_31420315 | 31412383 | TG | T | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0000 | a0000c0005a0000c0006a0000c0010others(5): Show | a0000c0005t0001a0000c0006t0001a0000c0010t0001others(5): Show | a0000c0005t0001g0005a0000c0005t0001g0018a0000c0005t0001g0021others(28): Show | 103 | 439 | 0.2346 | -1 | c.953 others(4): 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 | |
MID1_chrX_10440556_10625585 | 10567041 | G | GT | frameshift_variant | HIGH | NA19075.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0121 | 1 | 165 | 0.0061 | 1 | c.506 others(4): Show |
p.His others(5): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/10 | 858/6168 | 506/2004 | 169/667 | chrX | TogoVar | ||
MID1_chrX_10440556_10625585 | 10567165 | T | TG | frameshift_variant | HIGH | NA19075.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0121 | 1 | 165 | 0.0061 | 1 | c.382 others(4): Show |
p.Gln others(5): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/10 | 734/6168 | 382/2004 | 128/667 | chrX | TogoVar | ||
MID1_chrX_10440556_10625585 | 10567183 | C | CA | frameshift_variant | HIGH | NA19075.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0121 | 1 | 165 | 0.0061 | 1 | c.364 others(4): Show |
p.Cys others(5): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/10 | 716/6168 | 364/2004 | 122/667 | chrX | TogoVar | ||
MID1_chrX_10440556_10625585 | 10567397 | T | TG | frameshift_variant | HIGH | NA19075.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0121 | 1 | 165 | 0.0061 | 1 | c.150 others(4): Show |
p.Ile others(4): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/10 | 502/6168 | 150/2004 | 50/667 | chrX | TogoVar | ||
MLH3_chr14_75008775_75056467 | 75047993 | T | A | stop_gained | HIGH | NA19075.hp2 | a0014 | a0014c0025 | a0014c0025t0008 | a0014c0025t0008g0215 | 1 | 262 | 0.0038 | 0 | c.166 others(4): Show |
p.Lys others(4): Show |
MLH3 | ENSG00000119684.16 | transcript | ENST00000355774.7 | protein_coding | 2/13 | 1814/7820 | 1663/4362 | 555/1453 | chr14 | TogoVar | ||
MON2_chr12_62461826_62605476 | 62578430 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0031a0001c0006t0003a0001c0006t0007others(20): Show | a0001c0002t0031g0136a0001c0006t0003g0005a0001c0006t0003g0006others(143): Show | 148 | 368 | 0.4022 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233828629 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00597.hp2 HG00673.hp1 others(15): Show |
a0008a0022a0028others(5): Show | a0008c0005a0008c0122a0022c0072others(7): Show | a0008c0005t0001a0008c0122t0001a0022c0072t0001others(7): Show | a0008c0005t0001g0134a0008c0005t0001g0191a0008c0005t0001g0224others(15): Show | 18 | 378 | 0.0476 | 0 | c.411 others(6): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 35/41 | chr2 | 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 | ||
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 | ||
NDUFB11_chrX_47137216_47149702 | 47144667 | G | GCC | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0068 | 1 | 274 | 0.0037 | 2 | c.11_ others(7): Show |
p.Leu others(3): Show |
NDUFB11 | ENSG00000147123.12 | transcript | ENST00000377811.4 | protein_coding | 1/3 | 35/586 | 12/462 | 4/153 | chrX | TogoVar | ||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | ||
NUDT10_chrX_51327822_51342525 | 51333112 | C | CG | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0055 | a0002c0055t0004 | a0002c0055t0004g0026 | 1 | 306 | 0.0033 | 1 | c.152 others(4): Show |
p.Met others(4): Show |
NUDT10 | ENSG00000122824.11 | transcript | ENST00000356450.3 | protein_coding | 1/2 | 297/1925 | 153/495 | 51/164 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NUDT10_chrX_51327822_51342525 | 51333284 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0055 | a0002c0055t0004 | a0002c0055t0004g0026 | 1 | 306 | 0.0033 | -1 | c.322 others(4): Show |
p.Glu others(5): Show |
NUDT10 | ENSG00000122824.11 | transcript | ENST00000356450.3 | protein_coding | 1/2 | 466/1925 | 322/495 | 108/164 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NUDT10_chrX_51327822_51342525 | 51333427 | CA | C | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0055 | a0002c0055t0004 | a0002c0055t0004g0026 | 1 | 306 | 0.0033 | -1 | c.463 others(4): Show |
p.Met others(5): Show |
NUDT10 | ENSG00000122824.11 | transcript | ENST00000356450.3 | protein_coding | 1/2 | 607/1925 | 463/495 | 155/164 | chrX | TogoVar | ||
NUDT11_chrX_51485011_51501592 | 51496443 | ATCCTCGA others(7): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(44): Show | 273 | 274 | 0.9964 | -14 | c.-13 others(19): Show |
p.Met others(3): Show |
NUDT11 | ENSG00000196368.5 | transcript | ENST00000375992.4 | protein_coding | 1/2 | 149/2381 | 1/495 | 1/164 | chrX | TogoVar |