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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HLA-C_chr6_31263749_31277092 | 31271157 | G | A | stop_gained | HIGH | NA18943.hp1 | a0032 | a0032c0036 | a0032c0036t0002 | a0032c0036t0002g0054 | 1 | 449 | 0.0022 | 0 | c.535 others(3): Show |
p.Gln others(4): Show |
HLA-C | ENSG00000204525.18 | transcript | ENST00000376228.10 | protein_coding | 3/8 | 556/1542 | 535/1101 | 179/366 | 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-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005a0005c0006t0004g0016a0005c0006t0004g0022others(15): Show | 102 | 402 | 0.2537 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | 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 | ||
HLA-F_chr6_29718434_29732296 | 29724255 | C | A | stop_gained | HIGH | HG02132.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0004 | 1 | 443 | 0.0023 | 0 | c.417 others(3): Show |
p.Tyr others(4): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 3/7 | 447/1480 | 417/1329 | 139/442 | chr6 | TogoVar | ||
HLA-G_chr6_29822825_29836021 | 29829546 | C | T | stop_gained | HIGH | NA18967.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0001 | 1 | 479 | 0.0021 | 0 | c.748 others(3): Show |
p.Gln others(4): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 4/7 | 768/1319 | 748/1017 | 250/338 | chr6 | TogoVar | ||
HLCS_chr21_36743626_36971669 | 36767233 | G | A | stop_gained | HIGH | NA18940.hp1 | a0008 | a0008c0012 | a0008c0012t0035 | a0008c0012t0035g0069 | 1 | 258 | 0.0039 | 0 | c.194 others(4): Show |
p.Gln others(4): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 7/11 | 1976/8273 | 1945/2622 | 649/873 | chr21 | TogoVar | ||
HMBS_chr11_119079881_119098549 | 119088701 | G | T | stop_gained | HIGH | NA19089.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0224 | 1 | 444 | 0.0023 | 0 | c.154 others(3): Show |
p.Glu others(3): Show |
HMBS | ENSG00000256269.11 | transcript | ENST00000652429.1 | protein_coding | 3/14 | 307/1505 | 154/1086 | 52/361 | chr11 | TogoVar | ||
HMCES_chr3_129273870_129311186 | 129290739 | C | T | stop_gained | HIGH | HG02895.hp2 | a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0060 | 1 | 340 | 0.0029 | 0 | c.388 others(3): Show |
p.Arg others(4): Show |
HMCES | ENSG00000183624.14 | transcript | ENST00000383463.9 | protein_coding | 4/7 | 447/2485 | 388/1065 | 130/354 | chr3 | TogoVar | ||
HMCN2_chr9_130260760_130439123 | 130302964 | C | T | stop_gained | HIGH | HG00544.hp2 | a0037 | a0037c0117 | a0037c0117t0001 | a0037c0117t0001g0007 | 1 | 258 | 0.0039 | 0 | c.138 others(4): Show |
p.Arg others(4): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 9/98 | 1503/15789 | 1384/15240 | 462/5079 | chr9 | TogoVar | ||
HMCN2_chr9_130260760_130439123 | 130307462 | C | A | stop_gained | HIGH | HG00140.hp2 | a0153 | a0153c0172 | a0153c0172t0002 | a0153c0172t0002g0234 | 1 | 258 | 0.0039 | 0 | c.209 others(4): Show |
p.Ser others(4): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 14/98 | 2215/15789 | 2096/15240 | 699/5079 | chr9 | TogoVar | ||
HMCN2_chr9_130260760_130439123 | 130427505 | G | T | stop_gained | HIGH | HG02145.hp2 HG02615.hp2 HG03098.hp1 others(2): Show |
a0075a0083a0133others(2): Show | a0075c0110a0083c0068a0133c0152others(2): Show | a0075c0110t0001a0083c0068t0001a0133c0152t0002others(2): Show | a0075c0110t0001g0058a0083c0068t0001g0108a0133c0152t0002g0204others(2): Show | 5 | 258 | 0.0194 | 0 | c.139 others(5): Show |
p.Glu others(5): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 92/98 | 14070/15789 | 13951/15240 | 4651/5079 | chr9 | TogoVar | ||
HMMR_chr5_163455632_163496941 | 163483321 | G | A | stop_gained | HIGH | HG02451.hp2 | a0017 | a0017c0018 | a0017c0018t0001 | a0017c0018t0001g0100 | 1 | 406 | 0.0025 | 0 | c.173 others(4): Show |
p.Trp others(4): Show |
HMMR | ENSG00000072571.20 | transcript | ENST00000393915.9 | protein_coding | 15/18 | 1800/3016 | 1739/2178 | 580/725 | chr5 | TogoVar | ||
HNRNPCL1_chr1_12842377_12853720 | 12847830 | G | A | stop_gained | HIGH | HG00642.hp2 HG03195.hp2 |
a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0013 | 2 | 354 | 0.0057 | 0 | c.460 others(3): Show |
p.Arg others(4): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 2/2 | 681/1134 | 460/882 | 154/293 | chr1 | TogoVar | ||
HNRNPCL2_chr1_13110488_13121854 | 13115841 | A | T | stop_gained | HIGH | NA19075.hp2 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0036 | 1 | 425 | 0.0024 | 0 | c.560 others(3): Show |
p.Leu others(4): Show |
HNRNPCL2 | ENSG00000275774.3 | transcript | ENST00000621994.3 | protein_coding | 2/2 | 803/1156 | 560/882 | 187/293 | chr1 | TogoVar | ||
HOMEZ_chr14_23267422_23291132 | 23276020 | C | T | stop_gained | HIGH | NA19000.hp2 | a0020 | a0020c0023 | a0020c0023t0021 | a0020c0023t0021g0210 | 1 | 394 | 0.0025 | 0 | c.120 others(4): Show |
p.Trp others(4): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1388/4986 | 1208/1653 | 403/550 | chr14 | TogoVar | ||
HOMEZ_chr14_23267422_23291132 | 23276269 | T | TCACTGGG others(3): Show |
frameshift_variant others(1): Show |
HIGH | HG01258.hp2 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0136 | 1 | 394 | 0.0025 | 10 | c.949 others(17): Show |
p.Glu others(5): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1138/4986 | 958/1653 | 320/550 | chr14 | TogoVar | ||
HOOK2_chr19_12758003_12780552 | 12772786 | T | A | stop_gained | HIGH | HG03130.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0098 | 1 | 360 | 0.0028 | 0 | c.382 others(3): Show |
p.Lys others(4): Show |
HOOK2 | ENSG00000095066.12 | transcript | ENST00000397668.8 | protein_coding | 5/23 | 485/2542 | 382/2160 | 128/719 | chr19 | TogoVar | ||
HOOK2_chr19_12758003_12780552 | 12773022 | A | T | stop_gained | HIGH | HG03130.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0098 | 1 | 360 | 0.0028 | 0 | c.227 others(3): Show |
p.Leu others(3): Show |
HOOK2 | ENSG00000095066.12 | transcript | ENST00000397668.8 | protein_coding | 4/23 | 330/2542 | 227/2160 | 76/719 | chr19 | TogoVar | ||
HOXA4_chr7_27123525_27135757 | 27130149 | G | C | stop_gained | HIGH | HG01256.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0010 | 1 | 406 | 0.0025 | 0 | c.585 others(3): Show |
p.Tyr others(4): Show |
HOXA4 | ENSG00000197576.15 | transcript | ENST00000360046.10 | protein_coding | 1/2 | 609/1687 | 585/963 | 195/320 | chr7 | TogoVar | ||
HOXC8_chr12_54003985_54017769 | 54011346 | A | T | stop_gained | HIGH | NA18962.hp1 | a0006 | a0006c0006 | a0006c0006t0049 | a0006c0006t0049g0009 | 1 | 306 | 0.0033 | 0 | c.694 others(3): Show |
p.Lys others(4): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 2/2 | 994/2417 | 694/729 | 232/242 | chr12 | TogoVar | ||
HPGD_chr4_174485175_174527488 | 174491973 | G | A | stop_gained | HIGH | HG02486.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0123 | 1 | 414 | 0.0024 | 0 | c.784 others(3): Show |
p.Gln others(4): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 7/7 | 821/2619 | 784/801 | 262/266 | chr4 | TogoVar | ||
HPR_chr16_72058226_72082246 | 72075061 | A | ATTCTTCT others(16168): Show |
frameshift_variant others(1): Show |
HIGH | HG02818.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0091 | 1 | 412 | 0.0024 | 16175 | c.466 others(16182): Show |
p.Ala others(5): Show |
HPR | ENSG00000261701.9 | transcript | ENST00000540303.7 | protein_coding | 5/5 | 497/1242 | 467/1047 | 156/348 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
HPR_chr16_72058226_72082246 | 72076384 | G | A | stop_gained | HIGH | NA18962.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0001 | 1 | 412 | 0.0024 | 0 | c.350 others(3): Show |
p.Trp others(4): Show |
HPR | ENSG00000261701.9 | transcript | ENST00000540303.7 | protein_coding | 5/5 | 380/1242 | 350/1047 | 117/348 | chr16 | TogoVar | ||
HPSE_chr4_83287461_83339848 | 83322222 | G | A | stop_gained | HIGH | HG01515.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0317 | 1 | 320 | 0.0031 | 0 | c.370 others(3): Show |
p.Gln others(4): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 2/12 | 436/4581 | 370/1632 | 124/543 | chr4 | TogoVar | ||
HRC_chr19_49146198_49160396 | 49154049 | G | A | stop_gained | HIGH | HG03704.hp1 | a0030 | a0030c0047 | a0030c0047t0001 | a0030c0047t0001g0069 | 1 | 406 | 0.0025 | 0 | c.118 others(4): Show |
p.Arg others(4): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 1348/2357 | 1189/2100 | 397/699 | chr19 | TogoVar | ||
HRG_chr3_186661014_186683234 | 186677185 | G | T | stop_gained | HIGH | HG02717.hp2 HG02896.hp1 HG02897.hp2 |
a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0028a0012c0012t0001g0029 | 3 | 472 | 0.0064 | 0 | c.880 others(3): Show |
p.Glu others(4): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 7/7 | 898/1947 | 880/1578 | 294/525 | chr3 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11988): Show |
frameshift_variant others(1): Show |
HIGH | NA19089.hp2 | a0001 | a0001c0104 | a0001c0104t0001 | a0001c0104t0001g0111 | 1 | 418 | 0.0024 | 11995 | c.837 others(12004): Show |
p.Gln others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | HG02129.hp1 | a0001 | a0001c0079 | a0001c0079t0001 | a0001c0079t0001g0087 | 1 | 418 | 0.0024 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | NA18949.hp1 | a0001 | a0001c0080 | a0001c0080t0001 | a0001c0080t0001g0088 | 1 | 418 | 0.0024 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | HG00423.hp2 | a0001 | a0001c0078 | a0001c0078t0001 | a0001c0078t0001g0086 | 1 | 418 | 0.0024 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | HG02155.hp2 | a0001 | a0001c0098 | a0001c0098t0011 | a0001c0098t0011g0105 | 1 | 418 | 0.0024 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | NA18984.hp2 | a0001 | a0001c0113 | a0001c0113t0001 | a0001c0113t0001g0120 | 1 | 418 | 0.0024 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11990): Show |
stop_gained others(1): Show |
HIGH | NA18998.hp1 | a0001 | a0001c0112 | a0001c0112t0001 | a0001c0112t0001g0119 | 1 | 418 | 0.0024 | 11997 | c.837 others(12006): Show |
p.Ser others(12012): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(13397): Show |
stop_gained others(1): Show |
HIGH | HG02698.hp1 | a0001 | a0001c0155 | a0001c0155t0001 | a0001c0155t0001g0166 | 1 | 418 | 0.0024 | 13404 | c.837 others(13413): Show |
p.Ser others(13419): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(10926): Show |
frameshift_variant others(1): Show |
HIGH | NA19077.hp1 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0143 | 1 | 418 | 0.0024 | 10933 | c.828 others(10942): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213781 | A | ACCCCTAG others(1404): Show |
frameshift_variant others(1): Show |
HIGH | NA18988.hp1 | a0001 | a0001c0201 | a0001c0201t0002 | a0001c0201t0002g0214 | 1 | 418 | 0.0024 | 1411 | c.784 others(1420): Show |
p.Glu others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7923/9629 | 7847/8553 | 2616/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152214050 | G | A | stop_gained | HIGH | HG00673.hp2 | a0001 | a0001c0216 | a0001c0216t0002 | a0001c0216t0002g0227 | 1 | 418 | 0.0024 | 0 | c.757 others(4): Show |
p.Arg others(5): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7655/9629 | 7579/8553 | 2527/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152214060 | A | AGAAGACT others(1402): Show |
frameshift_variant others(1): Show |
HIGH | NA18982.hp1 | a0018 | a0018c0055 | a0018c0055t0002 | a0018c0055t0002g0196 | 1 | 418 | 0.0024 | 1409 | c.756 others(1418): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7644/9629 | 7568/8553 | 2523/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152218241 | G | A | stop_gained | HIGH | NA18990.hp1 | a0001 | a0001c0195 | a0001c0195t0002 | a0001c0195t0002g0210 | 1 | 418 | 0.0024 | 0 | c.338 others(4): Show |
p.Gln others(5): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3464/9629 | 3388/8553 | 1130/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152218244 | C | CGTGGCCT others(16216): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp2 | a0001 | a0001c0137 | a0001c0137t0001 | a0001c0137t0001g0148 | 1 | 418 | 0.0024 | 16223 | c.338 others(16232): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3460/9629 | 3384/8553 | 1128/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152218472 | G | A | stop_gained | HIGH | NA18955.hp1 | a0001 | a0001c0193 | a0001c0193t0002 | a0001c0193t0002g0208 | 1 | 418 | 0.0024 | 0 | c.315 others(4): Show |
p.Arg others(5): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3233/9629 | 3157/8553 | 1053/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152219330 | G | A | stop_gained | HIGH | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0045 | a0001c0045t0002 | a0001c0045t0002g0047 | 2 | 418 | 0.0048 | 0 | c.229 others(4): Show |
p.Arg others(4): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 2375/9629 | 2299/8553 | 767/2850 | chr1 | TogoVar | ||
HSD17B13_chr4_87298794_87327882 | 87317092 | C | T | stop_gained others(1): Show |
HIGH | HG02055.hp2 HG02895.hp1 HG03225.hp1 |
a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0178a0004c0005t0007g0179a0004c0005t0007g0230 | 3 | 442 | 0.0068 | 0 | c.450 others(3): Show |
p.Trp others(4): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 3/7 | 491/2368 | 450/903 | 150/300 | chr4 | TogoVar | ||
HSD17B14_chr19_48808018_48841491 | 48832708 | G | A | stop_gained | HIGH | HG02280.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0256 | 1 | 394 | 0.0025 | 0 | c.235 others(3): Show |
p.Arg others(3): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 4/9 | 315/1050 | 235/813 | 79/270 | chr19 | TogoVar | ||
HSDL1_chr16_84117141_84150177 | 84130153 | C | A | stop_gained | HIGH | NA19076.hp1 | a0005 | a0005c0010 | a0005c0010t0031 | a0005c0010t0031g0080 | 1 | 448 | 0.0022 | 0 | c.499 others(3): Show |
p.Glu others(4): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 4/6 | 665/3648 | 499/993 | 167/330 | chr16 | TogoVar | ||
HSFX1_chrX_149769068_149781867 | 149775020 | G | GTCCATCT others(10): Show |
frameshift_variant others(1): Show |
HIGH | HG02683.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0009 | 1 | 253 | 0.0040 | 17 | c.347 others(24): Show |
p.Trp others(5): Show |
HSFX1 | ENSG00000171116.7 | transcript | ENST00000370416.4 | protein_coding | 1/2 | 962/1963 | 348/1272 | 116/423 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
HSFX3_chrX_149543210_149554924 | 149549834 | C | A | stop_gained | HIGH | NA19006.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0016 | 1 | 332 | 0.0030 | 0 | c.19G others(2): Show |
p.Glu others(2): Show |
HSFX3 | ENSG00000283697.3 | transcript | ENST00000431993.4 | protein_coding | 1/2 | 91/1256 | 19/1002 | 7/333 | chrX | TogoVar | ||
HSPA6_chr1_161519540_161531894 | 161525967 | C | T | stop_gained | HIGH | HG02698.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0000 | 1 | 456 | 0.0022 | 0 | c.130 others(4): Show |
p.Gln others(4): Show |
HSPA6 | ENSG00000173110.8 | transcript | ENST00000309758.6 | protein_coding | 1/1 | 1428/2355 | 1309/1932 | 437/643 | chr1 | TogoVar |