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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESX1_chrX_104245038_104259933 | 104254845 | T | TC | frameshift_variant | HIGH | NA19072.hp1 | a0036 | a0036c0039 | a0036c0039t0003 | a0036c0039t0003g0029 | 1 | 313 | 0.0032 | 1 | c.4du others(2): Show |
p.Glu others(3): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 1/4 | 88/1495 | 4/1221 | 2/406 | chrX | TogoVar | ||
FAM133A_chrX_93669206_93717265 | 93709683 | TA | T | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0215 | 1 | 298 | 0.0034 | -1 | c.271 others(4): Show |
p.Arg others(4): Show |
FAM133A | ENSG00000179083.7 | transcript | ENST00000683942.1 | protein_coding | 4/4 | 604/3179 | 271/747 | 91/248 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FAM133A_chrX_93669206_93717265 | 93709789 | GA | G | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0215 | 1 | 298 | 0.0034 | -1 | c.374 others(4): Show |
p.Lys others(5): Show |
FAM133A | ENSG00000179083.7 | transcript | ENST00000683942.1 | protein_coding | 4/4 | 707/3179 | 374/747 | 125/248 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FAM133A_chrX_93669206_93717265 | 93709950 | CA | C | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0215 | 1 | 298 | 0.0034 | -1 | c.538 others(4): Show |
p.Arg others(5): Show |
FAM133A | ENSG00000179083.7 | transcript | ENST00000683942.1 | protein_coding | 4/4 | 871/3179 | 538/747 | 180/248 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0005a0011others(2): Show | a0003c0002a0005c0004a0011c0014others(2): Show | a0003c0002t0001a0005c0004t0001a0011c0014t0001others(2): Show | a0003c0002t0001g0002a0003c0002t0001g0174a0003c0002t0001g0175others(37): Show | 43 | 238 | 0.1807 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(107): Show | 114 | 238 | 0.4790 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FEZF2_chr3_62364681_62378550 | 62372516 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00642.hp1 HG01261.hp1 others(22): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0002g0005others(3): Show | 25 | 420 | 0.0595 | 1 | c.352 others(4): Show |
p.Ala others(5): Show |
FEZF2 | ENSG00000153266.13 | transcript | ENST00000283268.8 | protein_coding | 2/5 | 682/2112 | 352/1380 | 118/459 | chr3 | TogoVar | ||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(195): Show | 349 | 366 | 0.9536 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | ||
FOSL2_chr2_28387858_28422317 | 28404299 | A | T | stop_gained | HIGH | NA19072.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0117 | 1 | 364 | 0.0028 | 0 | c.295 others(3): Show |
p.Arg others(3): Show |
FOSL2 | ENSG00000075426.12 | transcript | ENST00000264716.9 | protein_coding | 2/4 | 1158/6713 | 295/981 | 99/326 | chr2 | TogoVar | ||
FTHL17_chrX_31066233_31077041 | 31071454 | GC | G | frameshift_variant | HIGH | NA19072.hp1 | a0000 | a0000c0009 | a0000c0009t0005 | a0000c0009t0005g0000 | 1 | 336 | 0.0030 | -1 | c.499 others(4): Show |
p.Ala others(5): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 1/1 | 587/809 | 499/552 | 167/183 | chrX | TogoVar | ||
GCSAML_chr1_247544134_247582690 | 247556467 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01074.hp2 HG01123.hp2 HG01361.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0182a0001c0001t0001g0194a0001c0001t0001g0212others(10): Show | 22 | 412 | 0.0534 | 0 | c.89+ others(4): Show |
GCSAML | ENSG00000169224.13 | transcript | ENST00000366488.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
GDI1_chrX_154432154_154448467 | 154440489 | GC | G | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0039 | 1 | 283 | 0.0035 | -1 | c.706 others(4): Show |
p.Gln others(5): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 6/11 | 807/2240 | 706/1344 | 236/447 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GDI1_chrX_154432154_154448467 | 154441111 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0039 | 1 | 283 | 0.0035 | -1 | c.741 others(4): Show |
p.Thr others(5): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 7/11 | 842/2240 | 741/1344 | 247/447 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GDI1_chrX_154432154_154448467 | 154442382 | C | CT | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0039 | 1 | 283 | 0.0035 | 1 | c.114 others(5): Show |
p.Ile others(5): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 10/11 | 1248/2240 | 1147/1344 | 383/447 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GDPD2_chrX_70418314_70438381 | 70427319 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0057 | 1 | 318 | 0.0031 | -1 | c.796 others(4): Show |
p.Val others(5): Show |
GDPD2 | ENSG00000130055.14 | transcript | ENST00000374382.4 | protein_coding | 10/16 | 874/1993 | 796/1620 | 266/539 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GDPD2_chrX_70418314_70438381 | 70427430 | GA | G | frameshift_variant | HIGH | NA19072.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0057 | 1 | 318 | 0.0031 | -1 | c.905 others(4): Show |
p.Lys others(5): Show |
GDPD2 | ENSG00000130055.14 | transcript | ENST00000374382.4 | protein_coding | 10/16 | 983/1993 | 905/1620 | 302/539 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GFER_chr16_1979193_1992749 | 1984463 | GGACGCAG others(14): Show |
G | frameshift_variant others(3): Show |
HIGH | NA19072.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0014 | 1 | 426 | 0.0024 | -21 | c.246 others(30): Show |
p.Thr others(4): Show |
GFER | ENSG00000127554.13 | transcript | ENST00000248114.7 | protein_coding | 1/3 | 272/2365 | 246/618 | 82/205 | chr16 | TogoVar | ||
GLOD5_chrX_48756747_48778648 | 48761830 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0042 | 1 | 269 | 0.0037 | -1 | c.44d others(3): Show |
p.Gly others(4): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 1/4 | 88/740 | 44/483 | 15/160 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466823 | T | C | stop_lost others(1): Show |
HIGH | HG00597.hp2 HG00673.hp2 HG02027.hp1 others(27): Show |
a0000 | a0000c0008a0000c0010a0000c0012others(9): Show | a0000c0008t0001a0000c0010t0002a0000c0012t0001others(9): Show | a0000c0008t0001g0002a0000c0008t0001g0012a0000c0008t0001g0018others(16): Show | 30 | 226 | 0.1327 | 0 | c.256 others(4): Show |
p.Ter others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2654/4401 | 2563/2565 | 855/854 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | ||
GOLGA8S_chr15_23349748_23373341 | 23364403 | G | T | stop_gained | HIGH | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(75): Show |
a0002a0013a0016others(17): Show | a0002c0002a0002c0086a0002c0087others(23): Show | a0002c0002t0001a0002c0002t0020a0002c0086t0001others(24): Show | a0002c0002t0001g0004a0002c0002t0001g0011a0002c0002t0001g0018others(61): Show | 78 | 430 | 0.1814 | 0 | c.144 others(4): Show |
p.Glu others(4): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 16/19 | 1509/5186 | 1447/1917 | 483/638 | chr15 | TogoVar | ||
GP6_chr19_55008705_55043264 | 55014735 | G | GCAGA | frameshift_variant | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003a0019 | a0003c0003a0003c0016a0003c0019others(1): Show | a0003c0003t0003a0003c0016t0003a0003c0019t0003others(1): Show | a0003c0003t0003g0003a0003c0003t0003g0004a0003c0003t0003g0019others(53): Show | 58 | 441 | 0.1315 | 4 | c.120 others(13): Show |
p.Pro others(5): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1237/2268 | 1209/1863 | 403/620 | chr19 | TogoVar | ||
GPR173_chrX_53043789_53085615 | 53076775 | GC | G | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0006 | a0004c0006t0057 | a0004c0006t0057g0022 | 1 | 208 | 0.0048 | -1 | c.157 others(4): Show |
p.Leu others(4): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 2/2 | 950/4787 | 157/1122 | 53/373 | INFO_REALIGN_3_PRIME | 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 | ||
GPRASP2_chrX_102707448_102722733 | 102717354 | CA | C | frameshift_variant | HIGH | NA19072.hp1 | a0007 | a0007c0007 | a0007c0007t0012 | a0007c0007t0012g0001 | 1 | 293 | 0.0034 | -1 | c.248 others(5): Show |
p.Asn others(5): Show |
GPRASP2 | ENSG00000158301.20 | transcript | ENST00000483720.7 | protein_coding | 5/5 | 3161/3536 | 2489/2517 | 830/838 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GPRASP2_chrX_102707448_102722733 | 102717362 | TC | T | frameshift_variant | HIGH | NA19072.hp1 | a0007 | a0007c0007 | a0007c0007t0012 | a0007c0007t0012g0001 | 1 | 293 | 0.0034 | -1 | c.249 others(5): Show |
p.Pro others(5): Show |
GPRASP2 | ENSG00000158301.20 | transcript | ENST00000483720.7 | protein_coding | 5/5 | 3167/3536 | 2495/2517 | 832/838 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GPRASP2_chrX_102707448_102722733 | 102717370 | T | TG | frameshift_variant | HIGH | NA19072.hp1 | a0007 | a0007c0007 | a0007c0007t0012 | a0007c0007t0012g0001 | 1 | 293 | 0.0034 | 1 | c.250 others(5): Show |
p.Gln others(5): Show |
GPRASP2 | ENSG00000158301.20 | transcript | ENST00000483720.7 | protein_coding | 5/5 | 3177/3536 | 2505/2517 | 835/838 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GRIPAP1_chrX_48968723_49007264 | 48999485 | CG | C | frameshift_variant | HIGH | NA19072.hp1 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0276 | 1 | 297 | 0.0034 | -1 | c.61d others(3): Show |
p.Arg others(4): Show |
GRIPAP1 | ENSG00000068400.14 | transcript | ENST00000376423.8 | protein_coding | 2/26 | 96/3031 | 61/2526 | 21/841 | chrX | TogoVar | ||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0014others(47): Show | 125 | 400 | 0.3125 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0118a0001c0001t0001g0120others(106): Show | 110 | 374 | 0.2941 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
HDAC10_chr22_50240183_50256265 | 50249430 | GCGGTGCC others(58): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA19072.hp2 | a0009 | a0009c0025 | a0009c0025t0002 | a0009c0025t0002g0044 | 1 | 448 | 0.0022 | -65 | c.564 others(75): Show |
p.Val others(13): Show |
HDAC10 | ENSG00000100429.18 | transcript | ENST00000216271.10 | protein_coding | 7/20 | 820/2567 | 564/2010 | 188/669 | chr22 | 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 | ||
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 | ||||||
IDS_chrX_149471988_149510306 | 149487096 | A | ACCCTAGT others(18): Show |
frameshift_variant others(2): Show |
HIGH | NA19072.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0153 | 1 | 303 | 0.0033 | 25 | c.100 others(37): Show |
p.Trp others(5): Show |
IDS | ENSG00000010404.18 | transcript | ENST00000340855.11 | protein_coding | 8/9 | 1177/7580 | 1008/1653 | 336/550 | chrX | TogoVar | ||
IDS_chrX_149471988_149510306 | 149496404 | T | TC | frameshift_variant | HIGH | NA19072.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0153 | 1 | 303 | 0.0033 | 1 | c.820 others(4): Show |
p.Glu others(5): Show |
IDS | ENSG00000010404.18 | transcript | ENST00000340855.11 | protein_coding | 6/9 | 989/7580 | 820/1653 | 274/550 | chrX | 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 | ||
IRS4_chrX_108714946_108741563 | 108735045 | GA | G | frameshift_variant | HIGH | NA19072.hp1 | a0013 | a0013c0011 | a0013c0011t0001 | a0013c0011t0001g0035 | 1 | 308 | 0.0033 | -1 | c.129 others(5): Show |
p.Arg others(5): Show |
IRS4 | ENSG00000133124.12 | transcript | ENST00000372129.4 | protein_coding | 1/2 | 1518/6563 | 1299/3771 | 433/1256 | chrX | TogoVar | ||
IRS4_chrX_108714946_108741563 | 108735502 | G | GC | frameshift_variant | HIGH | NA19072.hp1 | a0013 | a0013c0011 | a0013c0011t0001 | a0013c0011t0001g0035 | 1 | 308 | 0.0033 | 1 | c.842 others(4): Show |
p.Ser others(5): Show |
IRS4 | ENSG00000133124.12 | transcript | ENST00000372129.4 | protein_coding | 1/2 | 1061/6563 | 842/3771 | 281/1256 | chrX | TogoVar | ||
IRS4_chrX_108714946_108741563 | 108735615 | GC | G | frameshift_variant | HIGH | NA19072.hp1 | a0013 | a0013c0011 | a0013c0011t0001 | a0013c0011t0001g0035 | 1 | 308 | 0.0033 | -1 | c.729 others(4): Show |
p.Leu others(5): Show |
IRS4 | ENSG00000133124.12 | transcript | ENST00000372129.4 | protein_coding | 1/2 | 948/6563 | 729/3771 | 243/1256 | chrX | TogoVar | ||
KDM5D_chrY_19698865_19749726 | 19732119 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0059 | 1 | 131 | 0.0076 | -1 | c.113 others(5): Show |
p.Gln others(5): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 10/27 | 1213/6825 | 1138/4620 | 380/1539 | chrY | TogoVar | ||
KDM5D_chrY_19698865_19749726 | 19732135 | A | AG | frameshift_variant | HIGH | NA19072.hp1 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0059 | 1 | 131 | 0.0076 | 1 | c.112 others(10): Show |
p.Phe others(5): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 10/27 | 1197/6825 | 1122/4620 | 374/1539 | chrY | 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 | |
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 | ||||||
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 |