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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FLNA_chrX_154343531_154379634 | 154354254 | G | GC | frameshift_variant | HIGH | NA18992.hp2 | a0018 | a0018c0027 | a0018c0027t0002 | a0018c0027t0002g0192 | 1 | 279 | 0.0036 | 1 | c.545 others(10): Show |
p.Thr others(6): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 34/48 | 5698/8507 | 5453/7944 | 1818/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154354261 | GC | G | frameshift_variant | HIGH | NA18992.hp2 | a0018 | a0018c0027 | a0018c0027t0002 | a0018c0027t0002g0192 | 1 | 279 | 0.0036 | -1 | c.544 others(5): Show |
p.Ala others(6): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 34/48 | 5691/8507 | 5446/7944 | 1816/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154354406 | GA | G | frameshift_variant | HIGH | NA18992.hp2 | a0018 | a0018c0027 | a0018c0027t0002 | a0018c0027t0002g0192 | 1 | 279 | 0.0036 | -1 | c.539 others(5): Show |
p.Phe others(6): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 33/48 | 5635/8507 | 5390/7944 | 1797/2647 | chrX | TogoVar | ||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(24): Show | 336 | 384 | 0.8750 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | ||
FTHL17_chrX_31066233_31077041 | 31071512 | C | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show |
a0002a0004a0006 | a0002c0003a0002c0004a0004c0006others(1): Show | a0002c0003t0001a0002c0004t0001a0004c0006t0001others(1): Show | a0002c0003t0001g0000a0002c0004t0001g0000a0004c0006t0001g0000others(1): Show | 37 | 336 | 0.1101 | 0 | c.442 others(3): Show |
p.Glu others(4): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 1/1 | 530/809 | 442/552 | 148/183 | chrX | TogoVar | ||
GDI1_chrX_154432154_154448467 | 154442152 | GC | G | frameshift_variant | HIGH | NA18992.hp1 NA19006.hp1 |
a0003a0005 | a0003c0005a0005c0008 | a0003c0005t0007a0005c0008t0005 | a0003c0005t0007g0044a0005c0008t0005g0024 | 2 | 283 | 0.0071 | -1 | c.103 others(5): Show |
p.Gln others(5): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 9/11 | 1137/2240 | 1036/1344 | 346/447 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042a0003c0003t0001g0055a0003c0003t0001g0073others(79): Show | 84 | 350 | 0.2400 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | ||
GMIP_chr19_19624476_19648657 | 19633908 | C | CG | frameshift_variant | HIGH | HG01175.hp1 HG01934.hp2 HG02074.hp2 others(9): Show |
a0002a0004 | a0002c0009a0004c0004 | a0002c0009t0001a0002c0009t0002a0004c0004t0001others(1): Show | a0002c0009t0001g0061a0002c0009t0002g0159a0004c0004t0001g0049others(9): Show | 12 | 416 | 0.0289 | 1 | c.236 others(5): Show |
p.His others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 19/21 | 2494/3528 | 2366/2913 | 789/970 | chr19 | TogoVar | ||
GMIP_chr19_19624476_19648657 | 19637409 | C | CG | frameshift_variant | HIGH | HG00609.hp1 HG01099.hp1 HG01978.hp1 others(18): Show |
a0002 | a0002c0002a0002c0008a0002c0009others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0008t0001others(3): Show | a0002c0002t0001g0016a0002c0002t0001g0020a0002c0002t0001g0062others(12): Show | 21 | 416 | 0.0505 | 1 | c.107 others(5): Show |
p.Pro others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 11/21 | 1207/3528 | 1079/2913 | 360/970 | chr19 | TogoVar | ||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | ||
HLA-A_chr6_29937532_29950870 | 29943463 | T | A | stop_gained | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show |
a0001a0004a0029others(3): Show | a0001c0001a0004c0004a0029c0027others(3): Show | a0001c0001t0002a0004c0004t0004a0029c0027t0004others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0027others(7): Show | 88 | 418 | 0.2105 | 0 | c.539 others(3): Show |
p.Leu others(4): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3/8 | 561/1535 | 539/1098 | 180/365 | chr6 | TogoVar | ||
HLA-DPB1_chr6_33070990_33094696 | 33080689 | G | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show |
a0000a0006a0008others(10): Show | a0000c0009a0000c0012a0000c0018others(15): Show | a0000c0009t0006a0000c0009t0018a0000c0012t0006others(18): Show | a0000c0009t0006g0014a0000c0009t0006g0038a0000c0009t0006g0089others(31): Show | 116 | 455 | 0.2550 | 0 | c.118 others(3): Show |
p.Gly others(3): Show |
HLA-DPB1 | ENSG00000223865.11 | transcript | ENST00000418931.7 | protein_coding | 2/6 | 170/3991 | 118/777 | 40/258 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0003a0003c0002a0005c0008others(21): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(22): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(76): Show | 131 | 208 | 0.6298 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | 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 | ||
IFNE_chr9_21475839_21487313 | 21481484 | G | A | stop_gained | HIGH | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 61 | 450 | 0.1356 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 1/1 | 830/1475 | 211/627 | 71/208 | chr9 | 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 | |||||
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 | ||
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 | |
KIF4B_chr5_155008755_155023141 | 155016372 | A | AGCAGAAG others(9): Show |
frameshift_variant | HIGH | NA18992.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0000 | 1 | 420 | 0.0024 | 16 | c.252 others(25): Show |
p.Ser others(5): Show |
KIF4B | ENSG00000226650.6 | transcript | ENST00000435029.6 | protein_coding | 1/1 | 2641/4387 | 2536/3705 | 846/1234 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
KLC3_chr19_45335750_45356519 | 45350661 | ACT | A | frameshift_variant | HIGH | HG00597.hp2 NA18966.hp1 NA18992.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0016a0002c0004t0001g0042 | 5 | 434 | 0.0115 | -2 | c.129 others(11): Show |
p.Ser others(5): Show |
KLC3 | ENSG00000104892.17 | transcript | ENST00000391946.7 | protein_coding | 11/13 | 1402/1782 | 1297/1515 | 433/504 | INFO_REALIGN_3_PRIME | 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 | |||||
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 | ||
KRTAP1-1_chr17_41035541_41046450 | 41041247 | G | A | stop_gained | HIGH | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show |
a0002 | a0002c0002a0002c0006a0002c0014 | a0002c0002t0001a0002c0006t0001a0002c0014t0001 | a0002c0002t0001g0000a0002c0006t0001g0000a0002c0014t0001g0000 | 78 | 403 | 0.1936 | 0 | c.151 others(3): Show |
p.Gln others(3): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 204/910 | 151/534 | 51/177 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101562 | G | GGGGAAAG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00323.hp1 HG00597.hp1 HG00621.hp1 others(43): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 46 | 423 | 0.1088 | 76 | c.647 others(83): Show |
p.Ser others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 647/708 | 647/708 | 216/235 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101698 | G | GGGGAAGG others(19): Show |
frameshift_variant | HIGH | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(51): Show |
a0002a0010 | a0002c0003a0002c0011a0002c0014others(1): Show | a0002c0003t0000a0002c0011t0000a0002c0014t0000others(1): Show | a0002c0003t0000g0000a0002c0011t0000g0000a0002c0014t0000g0000others(1): Show | 54 | 423 | 0.1277 | 26 | c.511 others(33): Show |
p.Pro others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 511/708 | 511/708 | 171/235 | chr17 | 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 | ||||||
LILRA2_chr19_54568790_54595287 | 54587336 | C | CTGGAGGG others(16): Show |
frameshift_variant others(1): Show |
HIGH | NA18992.hp2 | a0019 | a0019c0028 | a0019c0028t0046 | a0019c0028t0046g0053 | 1 | 427 | 0.0023 | 23 | c.144 others(32): Show |
p.Arg others(5): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 8/8 | 1532/4482 | 1443/1452 | 481/483 | 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 | ||
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 | ||
MAGEB3_chrX_30225657_30242495 | 30236061 | TG | T | frameshift_variant | HIGH | NA18992.hp1 | a0011 | a0011c0004 | a0011c0004t0001 | a0011c0004t0001g0071 | 1 | 338 | 0.0030 | -1 | c.142 others(4): Show |
p.Ala others(4): Show |
MAGEB3 | ENSG00000198798.6 | transcript | ENST00000361644.4 | protein_coding | 5/5 | 658/2087 | 142/1041 | 48/346 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED2_chrX_54802745_54821015 | 54815403 | GC | G | frameshift_variant | HIGH | NA18992.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0001 | 1 | 319 | 0.0031 | -1 | c.154 others(5): Show |
p.Cys others(5): Show |
MAGED2 | ENSG00000102316.17 | transcript | ENST00000375068.6 | protein_coding | 12/13 | 1632/2051 | 1545/1821 | 515/606 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAPK8IP2_chr22_50595793_50618978 | 50605666 | C | CG | frameshift_variant | HIGH | NA18953.hp1 NA18966.hp2 NA18978.hp2 others(6): Show |
a0003 | a0003c0008a0003c0017a0003c0023 | a0003c0008t0001a0003c0008t0003a0003c0017t0004others(2): Show | a0003c0008t0001g0001a0003c0008t0001g0004a0003c0008t0001g0024others(5): Show | 9 | 436 | 0.0206 | 1 | c.195 others(5): Show |
p.Glu others(5): Show |
MAPK8IP2 | ENSG00000008735.14 | transcript | ENST00000329492.6 | protein_coding | 7/12 | 1978/5700 | 1952/2475 | 651/824 | INFO_REALIGN_3_PRIME | chr22 | 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 | ||
MROH2A_chr2_233773330_233838418 | 233804548 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18992.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0299 | 1 | 378 | 0.0027 | 0 | c.194 others(6): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 18/41 | chr2 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233823665 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(41): Show |
a0001a0002a0004others(12): Show | a0001c0035a0002c0003a0002c0016others(23): Show | a0001c0035t0001a0002c0003t0001a0002c0016t0001others(23): Show | a0001c0035t0001g0235a0002c0003t0001g0109a0002c0016t0001g0294others(41): Show | 44 | 378 | 0.1164 | 0 | c.411 others(6): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 35/41 | chr2 | 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 | ||
NBPF8_chr1_120410035_120474676 | 120436615 | CAAACAGC others(6346): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(72): Show |
a0002 | a0002c0001a0002c0009a0002c0013others(7): Show | a0002c0001t0001a0002c0001t0009a0002c0001t0010others(21): Show | a0002c0001t0001g0005a0002c0001t0001g0119a0002c0001t0001g0121others(71): Show | 75 | 292 | 0.2569 | -6353 | c.122 others(12): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 5/23 | 1094/7256 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
NCBP3_chr17_3797158_3851246 | 3816212 | T | A | stop_gained | HIGH | NA18992.hp1 | a0003 | a0003c0008 | a0003c0008t0099 | a0003c0008t0099g0226 | 1 | 370 | 0.0027 | 0 | c.136 others(4): Show |
p.Lys others(4): Show |
NCBP3 | ENSG00000074356.17 | transcript | ENST00000389005.6 | protein_coding | 11/13 | 1392/12772 | 1369/1863 | 457/620 | chr17 | 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 | ||
NPIPB13_chr16_30217897_30253479 | 30223954 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG00323.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0027a0038others(3): Show | a0001c0001a0001c0004a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(12): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(28): Show | 31 | 145 | 0.2138 | -113 | c.237 others(9): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5234/6292 | 2379/3417 | 793/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224067 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show |
a0002a0003a0004others(28): Show | a0002c0003a0002c0007a0002c0008others(39): Show | a0002c0003t0001a0002c0007t0007a0002c0007t0015others(50): Show | a0002c0003t0001g0059a0002c0003t0001g0061a0002c0003t0001g0068others(81): Show | 84 | 145 | 0.5793 | 13 | c.237 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5121/6292 | 2378/3417 | 793/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224193 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(39): Show | a0001c0001a0001c0004a0001c0018others(54): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(72): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(120): Show | 123 | 145 | 0.8483 | -13 | c.224 others(22): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4995/6292 | 2240/3417 | 747/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224884 | GGAGTGAG others(121): Show |
G | frameshift_variant | HIGH | NA18992.hp1 | a0051 | a0051c0051 | a0051c0051t0003 | a0051c0051t0003g0096 | 1 | 145 | 0.0069 | -128 | c.143 others(9): Show |
p.Leu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4304/6292 | 1434/3417 | 478/1138 | chr16 | TogoVar | ||
NUMA1_chr11_71997864_72085542 | 72005248 | A | ATAGCAGG others(23): Show |
stop_gained others(1): Show |
HIGH | NA18992.hp1 | a0016 | a0016c0025 | a0016c0025t0001 | a0016c0025t0001g0204 | 1 | 244 | 0.0041 | 30 | c.578 others(39): Show |
p.Cys others(45): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 23/27 | 6000/7198 | 5813/6348 | 1938/2115 | chr11 | TogoVar | ||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 381 | 403 | 0.9454 | -1 | c.250 others(4): Show |
p.Leu others(4): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1/7 | 633/3290 | 250/2637 | 84/878 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |