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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNPDA1_chr5_141995671_142018027 | 142002082 | T | A | stop_gained | HIGH | NA18997.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0068 | 1 | 423 | 0.0024 | 0 | c.817 others(3): Show |
p.Lys others(4): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 7/7 | 856/2267 | 817/870 | 273/289 | chr5 | TogoVar | ||
GOLGA8B_chr15_34520095_34588651 | 34535910 | C | G | start_lost | HIGH | NA18997.hp1 | a0024 | a0024c0014 | a0024c0014t0002 | a0024c0014t0002g0041 | 1 | 198 | 0.0051 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
GOLGA8B | ENSG00000215252.12 | transcript | ENST00000683415.1 | protein_coding | 9/24 | 1261/5607 | 3/1812 | 1/603 | chr15 | TogoVar | ||
GPR143_chrX_9720346_9770847 | 9739520 | T | TC | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0133 | 1 | 270 | 0.0037 | 1 | c.108 others(10): Show |
p.Gln others(5): Show |
GPR143 | ENSG00000101850.13 | transcript | ENST00000467482.6 | protein_coding | 8/9 | 1114/1645 | 1084/1215 | 362/404 | chrX | TogoVar | ||
GPR143_chrX_9720346_9770847 | 9739555 | G | GT | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0133 | 1 | 270 | 0.0037 | 1 | c.104 others(5): Show |
p.Asn others(5): Show |
GPR143 | ENSG00000101850.13 | transcript | ENST00000467482.6 | protein_coding | 8/9 | 1079/1645 | 1049/1215 | 350/404 | chrX | TogoVar | ||
GPR143_chrX_9720346_9770847 | 9739657 | G | GC | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0133 | 1 | 270 | 0.0037 | 1 | c.947 others(4): Show |
p.Cys others(5): Show |
GPR143 | ENSG00000101850.13 | transcript | ENST00000467482.6 | protein_coding | 8/9 | 977/1645 | 947/1215 | 316/404 | chrX | TogoVar | ||
GPR143_chrX_9720346_9770847 | 9739681 | C | CA | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0133 | 1 | 270 | 0.0037 | 1 | c.923 others(4): Show |
p.Leu others(5): Show |
GPR143 | ENSG00000101850.13 | transcript | ENST00000467482.6 | protein_coding | 8/9 | 953/1645 | 923/1215 | 308/404 | chrX | 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 | ||
GRIN2C_chr17_74837023_74864885 | 74850238 | C | CA | frameshift_variant | HIGH | HG01109.hp2 NA18944.hp2 NA18966.hp1 others(2): Show |
a0006 | a0006c0016a0006c0031a0006c0033others(1): Show | a0006c0016t0001a0006c0031t0001a0006c0033t0001others(1): Show | a0006c0016t0001g0151a0006c0016t0001g0152a0006c0031t0001g0150others(2): Show | 5 | 360 | 0.0139 | 1 | c.145 others(10): Show |
p.Val others(5): Show |
GRIN2C | ENSG00000161509.14 | transcript | ENST00000293190.10 | protein_coding | 6/13 | 1615/4271 | 1458/3702 | 486/1233 | chr17 | TogoVar | ||
GSC2_chr22_19141993_19155292 | 19149662 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18974.hp2 NA18975.hp1 NA18997.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 5 | 470 | 0.0106 | 0 | c.513 others(5): Show |
GSC2 | ENSG00000063515.3 | transcript | ENST00000086933.3 | protein_coding | 2/2 | chr22 | TogoVar | ||||||
GSTO1_chr10_104249892_104272455 | 104263071 | AGAG | A | frameshift_variant others(3): Show |
HIGH | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(15): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004a0003c0003t0001g0071a0003c0003t0001g0081 | 18 | 378 | 0.0476 | -3 | c.464 others(12): Show |
p.Glu others(5): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4/6 | 501/813 | 464/726 | 155/241 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
GTPBP3_chr19_17332553_17347731 | 17341646 | A | AG | frameshift_variant | HIGH | HG00423.hp1 HG00558.hp2 HG01099.hp2 others(46): Show |
a0000 | a0000c0004a0000c0005a0000c0007others(1): Show | a0000c0004t0001a0000c0004t0002a0000c0004t0005others(7): Show | a0000c0004t0001g0006a0000c0004t0001g0007a0000c0004t0001g0019others(19): Show | 49 | 408 | 0.1201 | 1 | c.142 others(5): Show |
p.Thr others(5): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 9/9 | 1487/2566 | 1428/1479 | 476/492 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(101): Show |
a0003a0004 | a0003c0003a0003c0009a0004c0004 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0194a0003c0003t0002g0198a0003c0003t0002g0202others(99): Show | 104 | 368 | 0.2826 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | 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 | ||||||
HYI_chr1_43445989_43458931 | 43451405 | CTCACCTC others(6): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA18951.hp2 NA18997.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0017 | 2 | 422 | 0.0047 | -13 | c.752 others(22): Show |
p.Gln others(19): Show |
HYI | ENSG00000178922.18 | transcript | ENST00000372430.9 | protein_coding | 7/8 | 752/834 | 251/277 | chr1 | 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 | ||
IRF2BP1_chr19_45878608_45891141 | 45884308 | A | AC | frameshift_variant | HIGH | HG00735.hp2 HG01099.hp1 HG01099.hp2 others(11): Show |
a0003a0004a0006others(1): Show | a0003c0007a0004c0008a0006c0016others(1): Show | a0003c0007t0001a0003c0007t0002a0004c0008t0001others(2): Show | a0003c0007t0001g0000a0003c0007t0002g0000a0004c0008t0001g0000others(2): Show | 14 | 416 | 0.0337 | 1 | c.146 others(5): Show |
p.Gly others(5): Show |
IRF2BP1 | ENSG00000170604.5 | transcript | ENST00000302165.5 | protein_coding | 1/1 | 1833/2534 | 1466/1755 | 489/584 | 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 | ||||||
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 | ||
KRT37_chr17_41415547_41429585 | 41422807 | G | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
a0002a0008 | a0002c0002a0002c0020a0008c0009 | a0002c0002t0002a0002c0020t0002a0008c0009t0002 | a0002c0002t0002g0002a0002c0002t0002g0013a0002c0002t0002g0036others(2): Show | 102 | 409 | 0.2494 | 0 | c.703 others(3): Show |
p.Gln others(4): Show |
KRT37 | ENSG00000108417.4 | transcript | ENST00000225550.4 | protein_coding | 3/7 | 765/1743 | 703/1350 | 235/449 | chr17 | 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 | ||
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 | ||
KRTAP4-12_chr17_41118091_41129182 | 41123867 | AGCAGCTG others(112): Show |
A | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0000 | 1 | 423 | 0.0024 | -119 | c.137 others(7): Show |
p.Cys others(4): Show |
KRTAP4-12 | ENSG00000213416.4 | transcript | ENST00000394014.2 | protein_coding | 1/1 | 315/1092 | 137/606 | 46/201 | 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 | ||
KRTAP9-1_chr17_41184887_41195639 | 41189887 | A | G | start_lost | HIGH | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 43 | 460 | 0.0935 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 1/753 | 1/753 | 1/250 | 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 | ||
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 | ||
LTN1_chr21_28923144_28997877 | 28970534 | AAAATTTA others(11): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18997.hp1 | a0016 | a0016c0016 | a0016c0016t0001 | a0016c0016t0001g0107 | 1 | 404 | 0.0025 | -18 | c.117 others(30): Show |
p.Leu others(5): Show |
LTN1 | ENSG00000198862.14 | transcript | ENST00000361371.10 | protein_coding | 8/30 | 1175/5301 | 392/1766 | chr21 | TogoVar | |||
MAGEE1_chrX_76422710_76436342 | 76428084 | T | TC | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 1 | c.157 others(4): Show |
p.Gln others(4): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 379/3633 | 158/2874 | 53/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76428115 | A | AG | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 1 | c.188 others(4): Show |
p.Ser others(4): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 410/3633 | 189/2874 | 63/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76428132 | GT | G | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.204 others(4): Show |
p.Leu others(4): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 425/3633 | 204/2874 | 68/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76428749 | GC | G | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.822 others(4): Show |
p.Ala others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1043/3633 | 822/2874 | 274/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76428794 | CG | C | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.866 others(4): Show |
p.Gly others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1087/3633 | 866/2874 | 289/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76428862 | C | CA | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 1 | c.932 others(8): Show |
p.Ala others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1154/3633 | 933/2874 | 311/957 | chrX | TogoVar | ||
MAGEE1_chrX_76422710_76436342 | 76428871 | A | AG | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 1 | c.944 others(4): Show |
p.Ser others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1166/3633 | 945/2874 | 315/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76428898 | C | CCTGA | frameshift_variant others(1): Show |
HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 4 | c.969 others(11): Show |
p.Pro others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1191/3633 | 970/2874 | 324/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76428934 | C | CA | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 1 | c.100 others(10): Show |
p.Ala others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1226/3633 | 1005/2874 | 335/957 | chrX | TogoVar | ||
MAGEE1_chrX_76422710_76436342 | 76429105 | T | TG | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 1 | c.117 others(5): Show |
p.Gln others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1398/3633 | 1177/2874 | 393/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429129 | CG | C | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.120 others(5): Show |
p.Gly others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1423/3633 | 1202/2874 | 401/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429150 | A | AC | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 1 | c.122 others(5): Show |
p.Gly others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1445/3633 | 1224/2874 | 408/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429243 | TA | T | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.131 others(5): Show |
p.Thr others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1536/3633 | 1315/2874 | 439/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429341 | AT | A | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.141 others(5): Show |
p.Ser others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1634/3633 | 1413/2874 | 471/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429351 | TG | T | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.142 others(5): Show |
p.Gly others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1645/3633 | 1424/2874 | 475/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429365 | TC | T | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.143 others(5): Show |
p.Arg others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1659/3633 | 1438/2874 | 480/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429625 | A | AC | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 1 | c.169 others(5): Show |
p.Val others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1919/3633 | 1698/2874 | 566/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429661 | TG | T | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.173 others(5): Show |
p.Pro others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1955/3633 | 1734/2874 | 578/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76429876 | TG | T | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | -1 | c.194 others(5): Show |
p.Glu others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 2169/3633 | 1948/2874 | 650/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar |