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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAAM2_chr6_39787376_39909869 | 39804928 | G | GGTCTGGT others(26): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0051 | 1 | 300 | 0.0033 | 33 | c.-57 others(52): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DACH1_chr13_71432966_71872204 | 71735369 | G | GGGATATA others(26): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0005t0002others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0034a0001c0001t0003g0026others(3): Show | 6 | 102 | 0.0588 | 33 | c.849 others(52): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86546357 | C | CTCTTCTT others(26): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0002g0151 | 2 | 166 | 0.0121 | 33 | c.640 others(52): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86546404 | C | CTTCTTCT others(26): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 166 | 0.0060 | 33 | c.640 others(52): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | chrX | TogoVar | ||||||
DAGLB_chr7_6404129_6452954 | 6421307 | T | TCAGCGCG others(26): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01943.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0195a0001c0004t0002g0202 | 2 | 380 | 0.0053 | 33 | c.121 others(50): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 9/14 | chr7 | TogoVar | ||||||
DAO_chr12_108875092_108906043 | 108896419 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 388 | 0.0026 | 33 | c.613 others(48): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DAO_chr12_108875092_108906043 | 108903322 | G | GAAGGAAG others(26): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0052 | 1 | 388 | 0.0026 | 33 | c.*27 others(44): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 2280 | chr12 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87571528 | C | CACACACA others(26): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 236 | 0.0042 | 33 | c.63- others(50): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87652265 | C | CCCCCCGA others(26): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02602.hp2 NA18747.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(3): Show | a0001c0001t0001g0050a0001c0004t0001g0127a0001c0004t0003g0120others(3): Show | 6 | 236 | 0.0254 | 33 | c.182 others(50): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87652277 | G | GGGTCCTG others(26): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03041.hp1 HG03130.hp1 others(1): Show |
a0003a0005 | a0003c0007a0005c0014 | a0003c0007t0001a0003c0007t0002a0005c0014t0001 | a0003c0007t0001g0030a0003c0007t0002g0106a0005c0014t0001g0031others(1): Show | 4 | 236 | 0.0170 | 33 | c.182 others(50): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87652310 | A | AGGTCCTG others(26): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0005a0001c0010a0002c0003others(1): Show | a0001c0005t0001a0001c0010t0001a0002c0003t0002others(1): Show | a0001c0005t0001g0221a0001c0005t0001g0235a0001c0010t0001g0047others(3): Show | 6 | 236 | 0.0254 | 33 | c.182 others(50): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87652435 | T | TGATACCA others(26): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02273.hp2 HG02602.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0025others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(4): Show | a0001c0001t0001g0050a0001c0004t0001g0127a0001c0004t0003g0120others(4): Show | 7 | 236 | 0.0297 | 33 | c.182 others(50): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAP_chr5_10674230_10766234 | 10730970 | T | TGGGGGGA others(26): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0162a0001c0001t0002g0286 | 2 | 372 | 0.0054 | 33 | c.152 others(52): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10731937 | G | GGTCAACC others(26): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 372 | 0.0027 | 33 | c.152 others(52): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DCAF5_chr14_69045881_69158119 | 69105944 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156a0001c0002t0001g0164 | 2 | 244 | 0.0082 | 33 | c.665 others(52): Show |
DCAF5 | ENSG00000139990.18 | transcript | ENST00000341516.10 | protein_coding | 5/8 | chr14 | TogoVar | ||||||
DCBLD2_chr3_98790941_98906695 | 98870737 | A | AAAAGAAA others(26): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01071.hp1 others(12): Show |
a0001 | a0001c0002a0001c0005a0001c0017 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0002t0002g0009a0001c0002t0002g0010a0001c0002t0002g0045others(10): Show | 15 | 330 | 0.0455 | 33 | c.433 others(52): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 52515606 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01192.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0010others(2): Show | a0001c0003t0030a0001c0005t0011a0001c0010t0003others(2): Show | a0001c0003t0030g0020a0001c0005t0011g0032a0001c0010t0003g0096others(2): Show | 5 | 114 | 0.0439 | 33 | c.91+ others(52): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53226948 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0008 | a0001c0008t0023 | a0001c0008t0023g0098 | 1 | 114 | 0.0088 | 33 | c.191 others(54): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53300989 | C | CTTTCTTT others(26): Show |
intron_variant | MODIFIER | HG01257.hp2 HG04228.hp1 |
a0002a0004 | a0002c0001a0004c0009 | a0002c0001t0001a0004c0009t0002 | a0002c0001t0001g0036a0004c0009t0002g0016 | 2 | 114 | 0.0175 | 33 | c.191 others(52): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53351291 | G | GTATATAT others(26): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0015 | a0001c0015t0022 | a0001c0015t0022g0101 | 1 | 114 | 0.0088 | 33 | c.235 others(54): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53351320 | G | GTATATAT others(26): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0107 | 1 | 114 | 0.0088 | 33 | c.235 others(54): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53429262 | T | TTTCACAG others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(32): Show |
a0001a0002a0006others(1): Show | a0001c0003a0001c0007a0002c0004others(4): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(17): Show | a0001c0003t0001g0058a0001c0003t0003g0041a0001c0003t0003g0073others(32): Show | 35 | 114 | 0.3070 | 33 | c.316 others(52): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 21/28 | chr18 | TogoVar | ||||||
DCDC2B_chr1_32204089_32221192 | 32220101 | G | GGTTCAGC others(26): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 404 | 0.0025 | 33 | c.*42 others(44): Show |
DCDC2B | ENSG00000222046.3 | transcript | ENST00000409358.2 | protein_coding | 3910 | chr1 | TogoVar | ||||||
DCHS1_chr11_6616330_6660809 | 6655824 | C | CCCCCTCC others(26): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG00735.hp2 others(23): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0003a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(6): Show | a0001c0001t0001g0030a0001c0001t0001g0095a0001c0001t0001g0107others(13): Show | 26 | 374 | 0.0695 | 33 | c.-38 others(42): Show |
DCHS1 | ENSG00000166341.9 | transcript | ENST00000299441.5 | protein_coding | 16 | chr11 | TogoVar | ||||||
DCHS1_chr11_6616330_6660809 | 6655824 | C | CCCCCTCC others(26): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG03130.hp1 HG03540.hp1 |
a0001a0012 | a0001c0011a0012c0014 | a0001c0011t0001a0012c0014t0001a0012c0014t0016 | a0001c0011t0001g0106a0012c0014t0001g0105a0012c0014t0016g0236 | 3 | 374 | 0.0080 | 33 | c.-38 others(42): Show |
DCHS1 | ENSG00000166341.9 | transcript | ENST00000299441.5 | protein_coding | 16 | chr11 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150166394 | T | TAGGGAGG others(26): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG02976.hp1 others(5): Show |
a0001a0002a0004 | a0001c0009a0002c0002a0004c0005 | a0001c0009t0007a0002c0002t0015a0002c0002t0018others(2): Show | a0001c0009t0007g0030a0002c0002t0015g0031a0002c0002t0018g0115others(5): Show | 8 | 116 | 0.0690 | 33 | c.757 others(52): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150175191 | T | TTATATAT others(26): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0033a0001c0001t0001g0112others(8): Show | 11 | 116 | 0.0948 | 33 | c.757 others(52): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150250941 | A | ACATCCCC others(26): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0106 | 1 | 116 | 0.0086 | 33 | c.207 others(52): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DCP2_chr5_112971798_113027195 | 112984697 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18990.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0030a0001c0002t0063 | a0001c0001t0030g0124a0001c0002t0063g0102 | 2 | 364 | 0.0055 | 33 | c.54- others(48): Show |
DCP2 | ENSG00000172795.17 | transcript | ENST00000389063.3 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
DCP2_chr5_112971798_113027195 | 112984701 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0077 | 1 | 364 | 0.0028 | 33 | c.54- others(48): Show |
DCP2 | ENSG00000172795.17 | transcript | ENST00000389063.3 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
DCP2_chr5_112971798_113027195 | 112984703 | A | AAATATAT others(26): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02040.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058a0001c0002t0002g0059 | 2 | 364 | 0.0055 | 33 | c.54- others(48): Show |
DCP2 | ENSG00000172795.17 | transcript | ENST00000389063.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDIT4L_chr4_100180870_100195468 | 100194203 | C | CTATTAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 452 | 0.0022 | 33 | c.-39 others(44): Show |
DDIT4L | ENSG00000145358.6 | transcript | ENST00000273990.6 | protein_coding | 3736 | chr4 | TogoVar | ||||||
DDX11_chr12_31068860_31109799 | 31093720 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 418 | 0.0024 | 33 | c.136 others(50): Show |
DDX11 | ENSG00000013573.17 | transcript | ENST00000542838.6 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DDX19A_chr16_70341903_70378383 | 70357366 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223 | 1 | 392 | 0.0026 | 33 | c.293 others(50): Show |
DDX19A | ENSG00000168872.17 | transcript | ENST00000302243.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DDX19B_chr16_70294186_70340305 | 70339392 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0038 | 2 | 336 | 0.0060 | 33 | c.*58 others(44): Show |
DDX19B | ENSG00000157349.17 | transcript | ENST00000288071.11 | protein_coding | 4088 | chr16 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132134821 | C | CACCTCCC others(26): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 334 | 0.0060 | 33 | c.*44 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1772 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132136128 | C | CCCGAGTG others(26): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 NA18948.hp1 |
a0001 | a0001c0001a0001c0029 | a0001c0001t0001a0001c0029t0001 | a0001c0001t0001g0001a0001c0029t0001g0072 | 2 | 334 | 0.0060 | 33 | c.*31 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 465 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132136235 | C | CCGAGTGT others(26): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 NA18995.hp1 NA19003.hp2 others(1): Show |
a0001a0018 | a0001c0001a0018c0026 | a0001c0001t0001a0018c0026t0001 | a0001c0001t0001g0001a0018c0026t0001g0060 | 4 | 334 | 0.0120 | 33 | c.*30 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 358 | chr12 | TogoVar | ||||||
DDX5_chr17_64493254_64511289 | 64501538 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 370 | 0.0027 | 33 | c.121 others(50): Show |
DDX5 | ENSG00000108654.16 | transcript | ENST00000225792.10 | protein_coding | 11/12 | chr17 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168286422 | C | CACACACC others(26): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02886.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0201a0003c0004t0001g0208 | 2 | 270 | 0.0074 | 33 | c.133 others(50): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 10/37 | chr4 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 674380 | C | CTTCATTT others(26): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 345 | 0.0029 | 33 | c.150 others(50): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
DEFA1_chr8_6972649_6985092 | 6974207 | T | TTTTCTTT others(26): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 2 | 408 | 0.0049 | 33 | c.*35 others(44): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 3441 | chr8 | TogoVar | ||||||
DEFA1_chr8_6972649_6985092 | 6984487 | T | TTTATAAG others(26): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 408 | 0.0025 | 33 | c.-44 others(44): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 4396 | chr8 | TogoVar | ||||||
DEFB106B_chr8_7477504_7491400 | 7484092 | T | TAATACTA others(26): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 180 | 0.0056 | 33 | c.50- others(48): Show |
DEFB106B | ENSG00000187082.2 | transcript | ENST00000335479.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31460620 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0030a0001c0001t0002g0038 | 3 | 362 | 0.0083 | 33 | c.*48 others(44): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 4850 | chr20 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31460635 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 362 | 0.0028 | 33 | c.*48 others(44): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 4835 | chr20 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31471049 | G | GGGGGCTG others(26): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 362 | 0.0028 | 33 | c.58+ others(48): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
DEFB132_chr20_252724_266096 | 258767 | A | ACTGTGAA others(26): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 430 | 0.0023 | 33 | c.59- others(46): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DEFB132_chr20_252724_266096 | 258767 | A | ACTGTGAA others(26): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(201): Show |
a0001a0009a0010 | a0001c0001a0009c0010a0010c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0016others(13): Show | 204 | 430 | 0.4744 | 33 | c.59- others(46): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DEFB132_chr20_252724_266096 | 258770 | G | GTGAAGAC others(26): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01169.hp2 others(7): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0019others(1): Show | a0001c0001t0003g0006a0001c0001t0005g0006a0001c0001t0019g0006others(1): Show | 10 | 430 | 0.0233 | 33 | c.59- others(46): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |