| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDX28_chr16_68015916_68028232 | 68020779 | ATACACG | A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00738.hp1 others(38): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0003a0003c0004t0001 | a0001c0002t0001g0000a0001c0002t0003g0000a0003c0004t0001g0000 | 41 | 390 | 0.1051 | -6 | c.*79 others(15): Show |
DDX28 | ENSG00000182810.7 | transcript | ENST00000332395.7 | protein_coding | 136 | chr16 | TogoVar | ||||||
| DDX31_chr9_132587997_132674983 | 132624166 | CAAAAAA | C | intron_variant | MODIFIER | HG02027.hp2 HG02080.hp2 HG02735.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0252a0001c0001t0001g0264a0001c0001t0001g0277others(5): Show | 8 | 402 | 0.0199 | -6 | c.171 others(25): Show |
DDX31 | ENSG00000125485.18 | transcript | ENST00000372159.8 | protein_coding | 17/19 | chr9 | TogoVar | ||||||
| DDX31_chr9_132587997_132674983 | 132653494 | CAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01975.hp1 others(9): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0024 | a0001c0001t0001a0001c0003t0001a0001c0003t0011others(1): Show | a0001c0001t0001g0180a0001c0001t0001g0192a0001c0001t0001g0193others(9): Show | 12 | 402 | 0.0299 | -6 | c.589 others(23): Show |
DDX31 | ENSG00000125485.18 | transcript | ENST00000372159.8 | protein_coding | 6/19 | chr9 | TogoVar | ||||||
| DDX31_chr9_132587997_132674983 | 132657435 | CTTTCTA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(82): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(8): Show | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0110others(77): Show | 85 | 402 | 0.2114 | -6 | c.588 others(23): Show |
DDX31 | ENSG00000125485.18 | transcript | ENST00000372159.8 | protein_coding | 6/19 | chr9 | TogoVar | ||||||
| DDX39A_chr19_14403798_14424341 | 14414325 | TTTATTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00597.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0023others(12): Show | 31 | 392 | 0.0791 | -6 | c.-4- others(21): Show |
DDX39A | ENSG00000123136.15 | transcript | ENST00000242776.9 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
| DDX39A_chr19_14403798_14424341 | 14421113 | GGAGGGT | G | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01258.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(11): Show | 28 | 392 | 0.0714 | -6 | c.-18 others(17): Show |
DDX39A | ENSG00000123136.15 | transcript | ENST00000242776.9 | protein_coding | 1773 | chr19 | TogoVar | ||||||
| DDX39B_chr6_31525226_31547003 | 31544640 | TAAAGAC | T | upstream_gene_variant | MODIFIER | HG03239.hp1 HG03669.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0067 | 5 | 445 | 0.0112 | -6 | c.-28 others(17): Show |
DDX39B | ENSG00000198563.14 | transcript | ENST00000396172.6 | protein_coding | 2638 | chr6 | TogoVar | ||||||
| DDX3X_chrX_41329162_41355274 | 41354822 | TTTGTTG | T | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 301 | 0.0033 | -6 | c.*71 others(17): Show |
DDX3X | ENSG00000215301.11 | transcript | ENST00000644876.2 | protein_coding | 4549 | chrX | TogoVar | ||||||
| DDX42_chr17_63769170_63824317 | 63793856 | TTATATA | T | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 HG02056.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0024others(20): Show | 29 | 332 | 0.0874 | -6 | c.372 others(23): Show |
DDX42 | ENSG00000198231.14 | transcript | ENST00000389924.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DDX42_chr17_63769170_63824317 | 63807132 | GTTTTGT | G | intron_variant | MODIFIER | HG02970.hp2 HG03209.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013 | a0001c0001t0010g0081a0001c0001t0010g0083a0001c0001t0013g0082 | 3 | 332 | 0.0090 | -6 | c.846 others(21): Show |
DDX42 | ENSG00000198231.14 | transcript | ENST00000389924.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DDX43_chr6_73389828_73422566 | 73412638 | AGTGTGT | A | intron_variant | MODIFIER | HG00438.hp1 HG02071.hp1 HG02080.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0008a0001c0001t0004g0186a0001c0001t0004g0188others(4): Show | 11 | 394 | 0.0279 | -6 | c.136 others(23): Show |
DDX43 | ENSG00000080007.8 | transcript | ENST00000370336.5 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DDX43_chr6_73389828_73422566 | 73412664 | TGTGTGC | T | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026a0001c0001t0004g0044a0001c0001t0004g0046others(8): Show | 15 | 394 | 0.0381 | -6 | c.136 others(23): Show |
DDX43 | ENSG00000080007.8 | transcript | ENST00000370336.5 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DDX46_chr5_134753779_134836121 | 134755608 | AATATAT | A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02622.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0143a0001c0001t0001g0157a0001c0001t0001g0175others(27): Show | 30 | 342 | 0.0877 | -6 | c.-33 others(17): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 3170 | chr5 | TogoVar | ||||||
| DDX46_chr5_134753779_134836121 | 134780096 | ATATGTG | A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03017.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0235a0001c0001t0002g0128a0001c0001t0013g0165others(2): Show | 5 | 342 | 0.0146 | -6 | c.766 others(23): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DDX46_chr5_134753779_134836121 | 134780098 | ATGTGTG | A | intron_variant | MODIFIER | HG00423.hp1 HG01515.hp1 HG02015.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0037a0001c0001t0001g0208others(8): Show | 11 | 342 | 0.0322 | -6 | c.766 others(21): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DDX46_chr5_134753779_134836121 | 134780164 | GTGTATA | G | intron_variant | MODIFIER | NA18946.hp2 NA18963.hp2 NA18985.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0006a0001c0001t0005g0001a0001c0001t0005g0002others(5): Show | 8 | 342 | 0.0234 | -6 | c.766 others(21): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DDX47_chr12_12808346_12834981 | 12809758 | GTGTATA | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02071.hp2 NA18945.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0002t0001g0018 | 5 | 450 | 0.0111 | -6 | c.-36 others(17): Show |
DDX47 | ENSG00000213782.7 | transcript | ENST00000358007.7 | protein_coding | 3587 | chr12 | TogoVar | ||||||
| DDX47_chr12_12808346_12834981 | 12809773 | TATATAC | T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02280.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0034others(6): Show | 15 | 450 | 0.0333 | -6 | c.-35 others(17): Show |
DDX47 | ENSG00000213782.7 | transcript | ENST00000358007.7 | protein_coding | 3572 | chr12 | TogoVar | ||||||
| DDX4_chr5_55733061_55822157 | 55793023 | AGTGTGT | A | intron_variant | MODIFIER | HG01243.hp2 HG01981.hp2 NA18906.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0052a0001c0002t0001g0158a0001c0004t0001g0215 | 3 | 346 | 0.0087 | -6 | c.146 others(23): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DDX50_chr10_68896315_68951847 | 68923937 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(76): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(70): Show | 79 | 334 | 0.2365 | -6 | c.123 others(25): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DDX50_chr10_68896315_68951847 | 68935834 | CAAAACA | C | intron_variant | MODIFIER | HG01109.hp1 HG03130.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256a0001c0002t0001g0257a0001c0002t0001g0258 | 3 | 334 | 0.0090 | -6 | c.152 others(23): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DDX50_chr10_68896315_68951847 | 68936515 | AATATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01070.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0122a0001c0002t0001g0177a0001c0002t0001g0197others(19): Show | 22 | 334 | 0.0659 | -6 | c.159 others(23): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DDX52_chr17_37604739_37648446 | 37629228 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01070.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0118a0001c0001t0002g0071a0001c0001t0002g0139others(14): Show | 17 | 411 | 0.0414 | -6 | c.748 others(21): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
| DDX52_chr17_37604739_37648446 | 37629272 | CACACAT | C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02965.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0007a0001c0001t0087a0002c0002t0044others(1): Show | a0001c0001t0007g0052a0001c0001t0087g0057a0002c0002t0044g0238others(1): Show | 4 | 411 | 0.0097 | -6 | c.748 others(21): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
| DDX52_chr17_37604739_37648446 | 37641149 | AGGAGGC | A | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02965.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0002c0002t0028a0002c0002t0029 | a0001c0001t0017g0182a0002c0002t0028g0193a0002c0002t0028g0194others(2): Show | 5 | 411 | 0.0122 | -6 | c.286 others(21): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
| DDX55_chr12_123597099_123625943 | 123620580 | TTATATA | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG02015.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0009a0001c0001t0066a0002c0004t0031others(2): Show | a0001c0001t0009g0001a0001c0001t0009g0005a0001c0001t0009g0015others(9): Show | 12 | 304 | 0.0395 | -6 | c.*48 others(15): Show |
DDX55 | ENSG00000111364.16 | transcript | ENST00000238146.9 | protein_coding | 14/14 | 483 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| DDX56_chr7_44560804_44578908 | 44578880 | AAAAAAG | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0055others(1): Show | 37 | 406 | 0.0911 | -6 | c.-49 others(17): Show |
DDX56 | ENSG00000136271.11 | transcript | ENST00000258772.10 | protein_coding | 4973 | chr7 | TogoVar | ||||||
| DDX5_chr17_64493254_64511289 | 64499186 | CATGAGT | C | 3_prime_UTR_variant | MODIFIER | HG04115.hp1 HG04115.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 3 | 370 | 0.0081 | -6 | c.*73 others(15): Show |
DDX5 | ENSG00000108654.16 | transcript | ENST00000225792.10 | protein_coding | 13/13 | 731 | chr17 | TogoVar | |||||
| DDX60L_chr4_168351735_168485492 | 168420463 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(61): Show |
a0001a0002a0003others(18): Show | a0001c0042a0001c0079a0002c0004others(32): Show | a0001c0042t0001a0001c0079t0001a0002c0004t0002others(39): Show | a0001c0042t0001g0147a0001c0079t0001g0152a0002c0004t0002g0076others(61): Show | 64 | 268 | 0.2388 | -6 | c.239 others(21): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 17/37 | chr4 | TogoVar | ||||||
| DDX60L_chr4_168351735_168485492 | 168420635 | CACACAT | C | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02723.hp1 others(1): Show |
a0008a0013 | a0008c0014a0013c0034a0013c0061 | a0008c0014t0001a0013c0034t0001a0013c0034t0002others(1): Show | a0008c0014t0001g0091a0013c0034t0001g0090a0013c0034t0002g0099others(1): Show | 4 | 268 | 0.0149 | -6 | c.239 others(23): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 17/37 | chr4 | TogoVar | ||||||
| DDX60_chr4_168211294_168323752 | 168244337 | AGGCACT | A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01081.hp2 others(76): Show |
a0001a0002a0004others(6): Show | a0001c0003a0001c0006a0001c0008others(18): Show | a0001c0003t0001a0001c0006t0001a0001c0008t0001others(19): Show | a0001c0003t0001g0012a0001c0003t0001g0017a0001c0003t0001g0100others(76): Show | 79 | 270 | 0.2926 | -6 | c.416 others(25): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 30/37 | chr4 | TogoVar | ||||||
| DDX6_chr11_118742763_118796164 | 118745653 | GACACAC | G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02109.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0051others(1): Show | a0001c0001t0002g0131a0001c0001t0018g0208a0001c0001t0018g0209others(2): Show | 5 | 370 | 0.0135 | -6 | c.*64 others(17): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 2109 | chr11 | TogoVar | ||||||
| DDX6_chr11_118742763_118796164 | 118792287 | CTCCGGA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp1 others(42): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(12): Show | a0001c0001t0002g0120a0001c0001t0002g0123a0001c0001t0002g0124others(41): Show | 45 | 370 | 0.1216 | -6 | c.-14 others(17): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 1124 | chr11 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 650022 | AAAAAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(80): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0014others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0014t0001others(1): Show | a0001c0002t0001g0042a0001c0002t0001g0202a0001c0002t0001g0205others(80): Show | 83 | 345 | 0.2406 | -6 | c.159 others(25): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 655828 | TTTATTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(133): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(131): Show | 136 | 345 | 0.3942 | -6 | c.150 others(25): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 669927 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0001 | a0001c0002a0001c0003a0001c0014 | a0001c0002t0001a0001c0003t0001a0001c0014t0001 | a0001c0002t0001g0208a0001c0002t0001g0209a0001c0002t0001g0220others(58): Show | 61 | 345 | 0.1768 | -6 | c.150 others(25): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
| DEDD2_chr19_42193598_42222677 | 42215000 | AACACAC | A | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02976.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0003 | a0001c0002t0001g0108a0002c0004t0003g0026 | 3 | 252 | 0.0119 | -6 | c.448 others(21): Show |
DEDD2 | ENSG00000160570.14 | transcript | ENST00000596251.6 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| DEFA5_chr8_7050304_7061739 | 7056014 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00673.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0003g0014others(3): Show | 32 | 472 | 0.0678 | -6 | c.173 others(21): Show |
DEFA5 | ENSG00000164816.8 | transcript | ENST00000330590.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| DEFB106A_chr8_7820139_7834053 | 7831092 | ATCTCTC | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG01256.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0057others(3): Show | 11 | 160 | 0.0688 | -6 | c.*21 others(17): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 2040 | chr8 | TogoVar | ||||||
| DEFB106B_chr8_7477504_7491400 | 7482003 | GGGGGAA | G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG03942.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0035others(1): Show | 6 | 180 | 0.0333 | -6 | c.*59 others(15): Show |
DEFB106B | ENSG00000187082.2 | transcript | ENST00000335479.2 | protein_coding | 500 | chr8 | TogoVar | ||||||
| DEFB108B_chr11_71828200_71842710 | 71836958 | GTGTGTC | G | intron_variant | MODIFIER | NA18945.hp1 NA18949.hp1 NA18973.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 5 | 440 | 0.0114 | -6 | c.59- others(19): Show |
DEFB108B | ENSG00000184276.3 | transcript | ENST00000328698.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DEFB112_chr6_50037099_50054929 | 50046221 | CTGTGTG | C | intron_variant | MODIFIER | HG02273.hp1 NA18951.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 332 | 0.0090 | -6 | c.59- others(21): Show |
DEFB112 | ENSG00000180872.7 | transcript | ENST00000651554.2 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
| DEFB113_chr6_49963677_49974625 | 49970511 | GTCTGGT | G | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 6 | 388 | 0.0155 | -6 | c.-89 others(15): Show |
DEFB113 | ENSG00000214642.1 | transcript | ENST00000398718.1 | protein_coding | 887 | chr6 | TogoVar | ||||||
| DEFB116_chr20_31298212_31313585 | 31298455 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02074.hp1 HG02300.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0000a0002c0002t0000 | a0001c0001t0000g0001a0001c0001t0000g0010a0002c0002t0000g0006others(1): Show | 14 | 416 | 0.0337 | -6 | c.*47 others(17): Show |
DEFB116 | ENSG00000215545.1 | transcript | ENST00000400549.1 | protein_coding | 4756 | chr20 | TogoVar | ||||||
| DEFB123_chr20_31435632_31455257 | 31439645 | CTGTTGT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(122): Show | 295 | 372 | 0.7930 | -6 | c.-10 others(17): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 986 | chr20 | TogoVar | ||||||
| DEFB124_chr20_31460471_31480127 | 31462591 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG01257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177a0001c0001t0001g0194a0001c0001t0002g0026others(7): Show | 11 | 362 | 0.0304 | -6 | c.*29 others(17): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2879 | chr20 | TogoVar | ||||||
| DEFB127_chr20_152454_164163 | 157927 | ATATATG | A | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01106.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0010a0002c0002t0002g0014a0002c0002t0008g0010 | 7 | 450 | 0.0156 | -6 | c.49+ others(19): Show |
DEFB127 | ENSG00000088782.5 | transcript | ENST00000382388.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| DEFB127_chr20_152454_164163 | 157929 | ATATGTG | A | intron_variant | MODIFIER | HG00621.hp1 HG02258.hp2 HG03041.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0005a0001c0003t0003a0003c0005t0003 | a0001c0001t0005g0013a0001c0003t0003g0005a0001c0003t0003g0019others(1): Show | 22 | 450 | 0.0489 | -6 | c.49+ others(19): Show |
DEFB127 | ENSG00000088782.5 | transcript | ENST00000382388.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| DEFB132_chr20_252724_266096 | 255818 | GATATAT | G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01167.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0019others(8): Show | a0001c0001t0003g0003a0001c0001t0003g0006a0001c0001t0005g0006others(11): Show | 29 | 430 | 0.0674 | -6 | c.-19 others(17): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1905 | chr20 | TogoVar | ||||||
| DEFB132_chr20_252724_266096 | 257794 | CTGGTCT | C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(260): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0004a0004c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0016others(32): Show | 263 | 430 | 0.6116 | -6 | c.20_ others(11): Show |
p.Val others(9): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1/2 | 75/2133 | 20/288 | 7/95 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |