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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0012a0021others(11): Show | a0001c0001a0001c0004a0001c0027others(16): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(19): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(42): Show | 45 | 282 | 0.1596 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(8111): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(18): Show |
a0006a0009a0011others(4): Show | a0006c0010a0009c0011a0009c0102others(6): Show | a0006c0010t0001a0006c0010t0003a0006c0010t0004others(8): Show | a0006c0010t0001g0011a0006c0010t0001g0140a0006c0010t0003g0139others(15): Show | 21 | 282 | 0.0745 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18465378 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG01106.hp1 HG01167.hp2 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0002a0001c0006t0001a0001c0007t0004others(6): Show | a0001c0001t0002g0026a0001c0001t0002g0261a0001c0001t0002g0334others(23): Show | 30 | 374 | 0.0802 | 0 | c.-19 others(5): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 1/20 | chr20 | TogoVar | ||||||
E4F1_chr16_2218591_2240742 | 2234658 | C | T | stop_gained | HIGH | HG02698.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0002 | 1 | 392 | 0.0026 | 0 | c.166 others(4): Show |
p.Arg others(4): Show |
E4F1 | ENSG00000167967.16 | transcript | ENST00000301727.9 | protein_coding | 11/14 | 1692/2548 | 1669/2355 | 557/784 | chr16 | TogoVar | ||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
EMILIN3_chr20_41354962_41371818 | 41362266 | G | GCACCCCG others(60): Show |
frameshift_variant | HIGH | HG02698.hp2 | a0017 | a0017c0024 | a0017c0024t0013 | a0017c0024t0013g0067 | 1 | 430 | 0.0023 | 67 | c.130 others(76): Show |
p.Leu others(5): Show |
EMILIN3 | ENSG00000183798.5 | transcript | ENST00000332312.4 | protein_coding | 4/4 | 1486/3791 | 1302/2301 | 434/766 | chr20 | TogoVar | ||
EPS8L3_chr1_109745080_109768923 | 109757952 | TCCTTGTT others(48): Show |
T | frameshift_variant | HIGH | HG02698.hp1 | a0017 | a0017c0023 | a0017c0023t0001 | a0017c0023t0001g0160 | 1 | 426 | 0.0024 | -55 | c.769 others(62): Show |
p.Glu others(5): Show |
EPS8L3 | ENSG00000198758.11 | transcript | ENST00000361965.9 | protein_coding | 9/19 | 949/2219 | 769/1782 | 257/593 | chr1 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150682217 | C | G | splice_donor_variant others(1): Show |
HIGH | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0090 | 1 | 348 | 0.0029 | 0 | c.882 others(5): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 7/13 | chr3 | TogoVar | ||||||
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0002g0018a0002c0005t0001g0006others(7): Show | 126 | 450 | 0.2800 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | ||
FAM90A8_chr8_7733387_7746396 | 7739771 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001a0003a0004others(28): Show | a0001c0001a0003c0003a0003c0006others(29): Show | a0001c0001t0000a0003c0003t0000a0003c0006t0000others(29): Show | a0001c0001t0000g0002a0001c0001t0000g0003a0001c0001t0000g0016others(53): Show | 72 | 108 | 0.6667 | 0 | c.432 others(5): Show |
FAM90A8 | ENSG00000285937.1 | transcript | ENST00000647775.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132570140 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG01175.hp1 HG01978.hp1 others(8): Show |
a0005a0016a0021 | a0005c0031a0005c0032a0005c0051others(5): Show | a0005c0031t0001a0005c0031t0029a0005c0032t0002others(7): Show | a0005c0031t0001g0258a0005c0031t0029g0061a0005c0032t0002g0017others(8): Show | 11 | 348 | 0.0316 | 1 | c.911 others(4): Show |
p.Gln others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 7/19 | 1332/4839 | 912/3009 | 304/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
FBXL18_chr7_5470797_5518809 | 5500960 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(36): Show |
a0002a0004a0005others(1): Show | a0002c0004a0002c0006a0002c0017others(3): Show | a0002c0004t0001a0002c0004t0002a0002c0004t0005others(26): Show | a0002c0004t0001g0007a0002c0004t0001g0144a0002c0004t0001g0148others(36): Show | 39 | 338 | 0.1154 | 1 | c.130 others(5): Show |
p.Ala others(5): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/5 | 1443/8270 | 1308/2157 | 436/718 | chr7 | TogoVar | ||
FCRL6_chr1_159797360_159821257 | 159815623 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(15): Show |
a0003a0008a0010others(1): Show | a0003c0003a0008c0020a0010c0010others(1): Show | a0003c0003t0002a0008c0020t0002a0010c0010t0002others(1): Show | a0003c0003t0002g0013a0003c0003t0002g0022a0003c0003t0002g0025others(5): Show | 18 | 452 | 0.0398 | 0 | c.126 others(4): Show |
p.Gln others(4): Show |
FCRL6 | ENSG00000181036.14 | transcript | ENST00000368106.4 | protein_coding | 10/10 | 1332/1966 | 1267/1305 | 423/434 | chr1 | TogoVar | ||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FMNL2_chr2_152330174_152654826 | 152619552 | G | GCCAC | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show |
a0002a0004a0008 | a0002c0002a0002c0004a0002c0007others(13): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0022a0002c0002t0001g0031others(72): Show | 75 | 200 | 0.3750 | 4 | c.167 others(13): Show |
p.Pro others(5): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 15/26 | 2104/5630 | 1674/3279 | 558/1092 | INFO_REALIGN_3_PRIME | chr2 | 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 | ||
FMO2_chr1_171180300_171217686 | 171209118 | C | CT | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show |
a0002a0004 | a0002c0002a0002c0019a0004c0009 | a0002c0002t0004a0002c0002t0005a0002c0002t0025others(2): Show | a0002c0002t0004g0004a0002c0002t0004g0008a0002c0002t0004g0009others(40): Show | 81 | 366 | 0.2213 | 1 | c.158 others(5): Show |
p.Cys others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1655/5215 | 1589/1608 | 530/535 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(3): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(5): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(5): Show | 99 | 326 | 0.3037 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(4): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(6): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(6): Show | 101 | 326 | 0.3098 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | TogoVar | ||
FOXD4L5_chr9_65277101_65290209 | 65283162 | AG | A | frameshift_variant | HIGH | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(6): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(12): Show | a0000c0001t0001g0000a0000c0001t0004g0000a0000c0001t0005g0000others(12): Show | 55 | 81 | 0.6790 | -1 | c.121 others(5): Show |
p.Trp others(5): Show |
FOXD4L5 | ENSG00000204779.2 | transcript | ENST00000377420.1 | protein_coding | 1/1 | 2047/3109 | 1215/1251 | 405/416 | chr9 | TogoVar | ||
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0002 | a0002c0002a0002c0008a0002c0022 | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(13): Show | a0002c0002t0003g0004a0002c0002t0003g0008a0002c0002t0003g0017others(51): Show | 91 | 394 | 0.2310 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | TogoVar | ||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0007others(74): Show | 148 | 430 | 0.3442 | 0 | c.487 others(3): Show |
p.Gly others(4): Show |
GAB4 | ENSG00000215568.9 | transcript | ENST00000400588.5 | protein_coding | 3/10 | 595/2630 | 487/1725 | 163/574 | chr22 | TogoVar | ||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | 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 | ||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345106 | C | CATGTAGC others(12): Show |
frameshift_variant | HIGH | HG02698.hp2 | a0044 | a0044c0058 | a0044c0058t0025 | a0044c0058t0025g0143 | 1 | 301 | 0.0033 | 19 | c.753 others(26): Show |
p.Glu others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 853/4452 | 753/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show |
a0003a0005a0043 | a0003c0003a0003c0061a0005c0005others(1): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(23): Show | 60 | 301 | 0.1993 | 40 | c.752 others(47): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0003a0005a0016others(4): Show | a0003c0003a0003c0061a0005c0005others(5): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(11): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(27): Show | 66 | 301 | 0.2193 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG01070.hp1 HG01071.hp1 HG01106.hp1 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0004 | a0001c0005t0001g0008a0001c0005t0001g0087a0001c0005t0001g0091others(2): Show | 10 | 396 | 0.0253 | 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 | 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 | ||
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 | ||
H1-8_chr3_129538175_129556467 | 129547457 | A | AC | frameshift_variant | HIGH | HG01109.hp2 HG01175.hp2 HG01433.hp2 others(12): Show |
a0005a0007a0009 | a0005c0007a0005c0019a0005c0020others(3): Show | a0005c0007t0001a0005c0007t0003a0005c0019t0001others(4): Show | a0005c0007t0001g0001a0005c0007t0001g0002a0005c0007t0001g0004others(10): Show | 15 | 422 | 0.0356 | 1 | c.161 others(4): Show |
p.Val others(4): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2/5 | 206/1212 | 162/1041 | 54/346 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
H2AC18_chr1_149837218_149847750 | 149842446 | G | A | stop_gained | HIGH | HG02698.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0000 | 1 | 320 | 0.0031 | 0 | c.253 others(3): Show |
p.Gln others(3): Show |
H2AC18 | ENSG00000288825.1 | transcript | ENST00000369159.3 | protein_coding | 1/1 | 305/533 | 253/393 | 85/130 | chr1 | TogoVar | ||
H6PD_chr1_9229774_9276337 | 9244919 | CCCCAGGC others(1): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show |
a0001a0002a0017others(1): Show | a0001c0001a0001c0004a0001c0020others(4): Show | a0001c0001t0008a0001c0001t0022a0001c0004t0005others(11): Show | a0001c0001t0008g0002a0001c0001t0008g0049a0001c0001t0008g0253others(28): Show | 40 | 404 | 0.0990 | -8 | c.-7_ others(12): Show |
p.Met others(3): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 2/5 | 297/9147 | 1/2376 | 1/791 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||
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 | ||
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 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | 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 | ||
IRX5_chr16_54925865_54939485 | 54933218 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(30): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0001a0004c0005t0001a0004c0005t0002others(2): Show | a0003c0004t0001g0001a0003c0004t0001g0009a0004c0005t0001g0001others(4): Show | 33 | 390 | 0.0846 | 1 | c.805 others(4): Show |
p.Arg others(5): Show |
IRX5 | ENSG00000176842.16 | transcript | ENST00000394636.9 | protein_coding | 3/3 | 1140/2398 | 806/1452 | 269/483 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0003a0004a0008others(1): Show | a0003c0003a0003c0010a0003c0011others(4): Show | a0003c0003t0001a0003c0010t0001a0003c0011t0001others(4): Show | a0003c0003t0001g0006a0003c0003t0001g0007a0003c0003t0001g0011others(23): Show | 114 | 436 | 0.2615 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | TogoVar | ||
KBTBD8_chr3_66993307_67016210 | 67007905 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp1 HG02145.hp1 HG02559.hp2 others(13): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0014a0001c0001t0002g0055a0001c0001t0005g0009others(7): Show | 16 | 390 | 0.0410 | 1 | c.134 others(7): Show |
KBTBD8 | ENSG00000163376.11 | transcript | ENST00000417314.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | 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 |