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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX10_chr11_108660069_108945927 | 108837607 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | NA18983.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0096 | 2 | 320 | 0.0063 | -16 | c.196 others(33): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DDX10_chr11_108660069_108945927 | 108910728 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(50): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0021others(50): Show | 53 | 320 | 0.1656 | -16 | c.230 others(35): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DDX10_chr11_108660069_108945927 | 108910785 | GTGTGTCT others(9): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0214 | 1 | 320 | 0.0031 | -16 | c.230 others(35): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DDX11_chr12_31068860_31109799 | 31099414 | GTTTACTT others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(308): Show |
a0001a0003a0005others(14): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(35): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(244): Show | 311 | 418 | 0.7440 | -16 | c.187 others(35): Show |
DDX11 | ENSG00000013573.17 | transcript | ENST00000542838.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DDX11_chr12_31068860_31109799 | 31108879 | ATGTGTGT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0013 | a0008c0013t0007 | a0008c0013t0007g0018 | 1 | 418 | 0.0024 | -16 | c.*50 others(27): Show |
DDX11 | ENSG00000013573.17 | transcript | ENST00000542838.6 | protein_coding | 4081 | chr12 | TogoVar | ||||||
DDX1_chr2_15586868_15636101 | 15590919 | CTGTGTGT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02148.hp2 HG02293.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234a0001c0002t0001g0235 | 2 | 396 | 0.0051 | -16 | c.-10 others(26): Show |
DDX1 | ENSG00000079785.16 | transcript | ENST00000233084.8 | protein_coding | 948 | chr2 | TogoVar | ||||||
DDX28_chr16_68015916_68028232 | 68020851 | GTATATAT others(9): Show |
G | downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 390 | 0.0026 | -16 | c.*71 others(25): Show |
DDX28 | ENSG00000182810.7 | transcript | ENST00000332395.7 | protein_coding | 64 | chr16 | TogoVar | ||||||
DDX31_chr9_132587997_132674983 | 132632239 | TGTACACA others(9): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01993.hp2 HG02965.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0003t0001a0004c0006t0005 | a0001c0001t0001g0328a0001c0003t0001g0116a0001c0003t0001g0128others(2): Show | 5 | 402 | 0.0124 | -16 | c.144 others(33): Show |
DDX31 | ENSG00000125485.18 | transcript | ENST00000372159.8 | protein_coding | 14/19 | chr9 | TogoVar | ||||||
DDX39B_chr6_31525226_31547003 | 31525296 | CTTTTTTT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0051others(2): Show | 16 | 445 | 0.0360 | -16 | c.*51 others(27): Show |
DDX39B | ENSG00000198563.14 | transcript | ENST00000396172.6 | protein_coding | 4929 | chr6 | TogoVar | ||||||
DDX39B_chr6_31525226_31547003 | 31542550 | CTGTCCGA others(9): Show |
C | upstream_gene_variant | MODIFIER | NA18747.hp2 NA18975.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 3 | 445 | 0.0067 | -16 | c.-74 others(25): Show |
DDX39B | ENSG00000198563.14 | transcript | ENST00000396172.6 | protein_coding | 548 | chr6 | TogoVar | ||||||
DDX42_chr17_63769170_63824317 | 63789549 | TTTTGTTT others(9): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG01928.hp2 others(27): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0003g0005others(21): Show | 30 | 332 | 0.0904 | -16 | c.221 others(33): Show |
DDX42 | ENSG00000198231.14 | transcript | ENST00000389924.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DDX42_chr17_63769170_63824317 | 63795448 | ATCCTCCT others(9): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 332 | 0.0030 | -16 | c.373 others(33): Show |
DDX42 | ENSG00000198231.14 | transcript | ENST00000389924.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DDX47_chr12_12808346_12834981 | 12809763 | TATATATA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(170): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0008c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(44): Show | 173 | 450 | 0.3844 | -16 | c.-36 others(27): Show |
DDX47 | ENSG00000213782.7 | transcript | ENST00000358007.7 | protein_coding | 3582 | chr12 | TogoVar | ||||||
DDX4_chr5_55733061_55822157 | 55733120 | CTCCTTCC others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02027.hp2 HG02056.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0141a0001c0001t0001g0142others(18): Show | 22 | 346 | 0.0636 | -16 | c.-49 others(27): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 4940 | chr5 | TogoVar | ||||||
DDX4_chr5_55733061_55822157 | 55783633 | AGATGGAT others(9): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 346 | 0.0029 | -16 | c.626 others(33): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX4_chr5_55733061_55822157 | 55796823 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(81): Show | 92 | 346 | 0.2659 | -16 | c.147 others(35): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68929279 | TCCTTCCT others(9): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0314 | 1 | 334 | 0.0030 | -16 | c.124 others(35): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68929280 | CCTTCCTT others(9): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01123.hp1 others(25): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236a0001c0002t0001g0255a0001c0002t0001g0276others(25): Show | 28 | 334 | 0.0838 | -16 | c.124 others(35): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68936505 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0310 | 1 | 334 | 0.0030 | -16 | c.159 others(33): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68936511 | AAAAAATA others(9): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 | 1 | 334 | 0.0030 | -16 | c.159 others(33): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68936513 | AAAATATA others(9): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0239 | 1 | 334 | 0.0030 | -16 | c.159 others(33): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX52_chr17_37604739_37648446 | 37629228 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02145.hp2 HG02280.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0051a0002c0002t0052 | a0002c0002t0001g0037a0002c0002t0001g0204a0002c0002t0051g0237others(1): Show | 5 | 411 | 0.0122 | -16 | c.748 others(31): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
DDX54_chr12_113152173_113190478 | 113188787 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01515.hp2 others(23): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0014 | a0001c0001t0001a0002c0002t0002a0002c0002t0006others(1): Show | a0001c0001t0001g0002a0002c0002t0002g0003a0002c0002t0002g0019others(8): Show | 26 | 306 | 0.0850 | -16 | c.-33 others(27): Show |
DDX54 | ENSG00000123064.13 | transcript | ENST00000306014.10 | protein_coding | 3310 | chr12 | TogoVar | ||||||
DDX55_chr12_123597099_123625943 | 123620580 | TTATATAT others(9): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02293.hp1 NA18960.hp2 NA19012.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0021a0001c0001t0065a0002c0005t0041 | a0001c0001t0021g0018a0001c0001t0021g0117a0001c0001t0065g0001others(1): Show | 4 | 304 | 0.0132 | -16 | c.*47 others(25): Show |
DDX55 | ENSG00000111364.16 | transcript | ENST00000238146.9 | protein_coding | 14/14 | 473 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
DDX60L_chr4_168351735_168485492 | 168377291 | CAAATAAA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(113): Show |
a0001a0002a0003others(28): Show | a0001c0002a0001c0079a0002c0004others(46): Show | a0001c0002t0001a0001c0079t0001a0002c0004t0003others(55): Show | a0001c0002t0001g0040a0001c0079t0001g0152a0002c0004t0003g0024others(112): Show | 116 | 268 | 0.4328 | -16 | c.448 others(35): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 33/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168420678 | TAGATAGA others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00609.hp2 others(6): Show |
a0003a0005a0006others(2): Show | a0003c0001a0005c0008a0006c0006others(2): Show | a0003c0001t0003a0005c0008t0001a0006c0006t0003others(2): Show | a0003c0001t0003g0155a0003c0001t0003g0184a0005c0008t0001g0179others(6): Show | 9 | 268 | 0.0336 | -16 | c.239 others(33): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 17/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168449498 | GAGATATA others(9): Show |
G | intron_variant | MODIFIER | NA18939.hp1 | a0021 | a0021c0030 | a0021c0030t0002 | a0021c0030t0002g0200 | 1 | 268 | 0.0037 | -16 | c.997 others(31): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 8/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168479150 | GGATGGAT others(9): Show |
G | intron_variant | MODIFIER | HG00609.hp2 NA18962.hp1 NA19009.hp1 |
a0003a0005a0011 | a0003c0001a0005c0003a0011c0010 | a0003c0001t0003a0005c0003t0001a0011c0010t0001 | a0003c0001t0003g0155a0005c0003t0001g0154a0011c0010t0001g0156 | 3 | 268 | 0.0112 | -16 | c.-11 others(35): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 1/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168239375 | AAGATAGA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01081.hp2 others(5): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0059a0004c0005t0001g0133a0004c0005t0001g0134others(5): Show | 8 | 270 | 0.0296 | -16 | c.416 others(35): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 30/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168285969 | TGAAAGAA others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01361.hp2 others(5): Show |
a0003a0010 | a0003c0004a0003c0014a0010c0019 | a0003c0004t0001a0003c0014t0001a0010c0019t0001 | a0003c0004t0001g0051a0003c0004t0001g0187a0003c0004t0001g0188others(5): Show | 8 | 270 | 0.0296 | -16 | c.134 others(33): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 10/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168297297 | CGAAAGAA others(9): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01255.hp2 HG01516.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0033others(15): Show | 18 | 270 | 0.0667 | -16 | c.724 others(33): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168297370 | GAAAGAAA others(9): Show |
G | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 270 | 0.0037 | -16 | c.724 others(33): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118745653 | GACACACA others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0090 | 2 | 370 | 0.0054 | -16 | c.*64 others(27): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 2109 | chr11 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118766037 | CTCCAGTC others(9): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0058 | a0001c0001t0022g0243a0001c0001t0022g0244a0001c0001t0022g0276others(1): Show | 4 | 370 | 0.0108 | -16 | c.500 others(31): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 5/13 | chr11 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 408138 | GGCCTCTG others(9): Show |
G | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 367 | 0.0027 | -16 | c.337 others(31): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4/8 | chr16 | TogoVar | ||||||
DEF8_chr16_89943755_89973060 | 89969270 | GGACTACA others(9): Show |
G | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 392 | 0.0026 | -16 | c.*33 others(27): Show |
DEF8 | ENSG00000140995.17 | transcript | ENST00000563594.6 | protein_coding | 1211 | chr16 | TogoVar | ||||||
DEFA1_chr8_6972649_6985092 | 6974207 | TTTTCTTT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0026 | 1 | 408 | 0.0025 | -16 | c.*35 others(27): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 3441 | chr8 | TogoVar | ||||||
DEFB106B_chr8_7477504_7491400 | 7480413 | GGAGGGAG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00733.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0013others(21): Show | 51 | 180 | 0.2833 | -16 | c.*21 others(27): Show |
DEFB106B | ENSG00000187082.2 | transcript | ENST00000335479.2 | protein_coding | 2090 | chr8 | TogoVar | ||||||
DEFB107A_chr8_7806720_7820716 | 7809593 | CTTTTTTT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02683.hp2 NA18969.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0076a0001c0001t0002g0085 | 3 | 170 | 0.0177 | -16 | c.*21 others(27): Show |
DEFB107A | ENSG00000186572.2 | transcript | ENST00000335021.2 | protein_coding | 2126 | chr8 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31450566 | ATATATTT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 372 | 0.0027 | -16 | c.*39 others(25): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 310 | chr20 | TogoVar | ||||||
DEFB129_chr20_222258_234886 | 228258 | GCTTCTAA others(9): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 HG01168.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0031a0002c0003t0001g0006others(3): Show | 20 | 450 | 0.0444 | -16 | c.58+ others(29): Show |
DEFB129 | ENSG00000125903.4 | transcript | ENST00000246105.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DEFB134_chr8_11988174_12005752 | 12001948 | TTCTTTCT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063a0001c0001t0002g0137a0001c0001t0003g0004others(6): Show | 12 | 448 | 0.0268 | -16 | c.-13 others(27): Show |
DEFB134 | ENSG00000205882.9 | transcript | ENST00000382205.6 | protein_coding | 1197 | chr8 | TogoVar | ||||||
DEFB1_chr8_6865592_6882936 | 6874131 | ACACACAC others(9): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG02258.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0001 | a0001c0001t0006g0115a0001c0006t0001g0049 | 3 | 478 | 0.0063 | -16 | c.62- others(31): Show |
DEFB1 | ENSG00000164825.4 | transcript | ENST00000297439.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEFB4A_chr8_7889677_7901716 | 7895845 | GGGAGGGA others(9): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 1 | 94 | 0.0106 | -16 | c.59- others(29): Show |
DEFB4A | ENSG00000171711.3 | transcript | ENST00000302247.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEGS2_chr14_100138957_100164645 | 100153252 | CAGATAGA others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0035 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0013others(6): Show | 26 | 440 | 0.0591 | -16 | c.83- others(31): Show |
DEGS2 | ENSG00000168350.8 | transcript | ENST00000305631.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123514094 | GTGTATGT others(9): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0155a0001c0002t0002g0106a0001c0002t0002g0146 | 3 | 162 | 0.0185 | -16 | c.993 others(35): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 13/23 | chr9 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123516107 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061a0001c0002t0001g0103 | 2 | 162 | 0.0124 | -16 | c.993 others(35): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 13/23 | chr9 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123531552 | TCTACACA others(9): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01952.hp2 HG02040.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0111a0001c0001t0002g0092a0001c0002t0003g0003others(9): Show | 12 | 162 | 0.0741 | -16 | c.993 others(35): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 13/23 | chr9 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123564980 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0002t0002a0001c0009t0001 | a0001c0002t0001g0104a0001c0002t0001g0105a0001c0002t0001g0107others(2): Show | 5 | 162 | 0.0309 | -16 | c.868 others(33): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 12/23 | chr9 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123674340 | TCTCACAC others(9): Show |
T | intron_variant | MODIFIER | NA18970.hp1 NA18975.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0081a0001c0004t0002g0082 | 2 | 162 | 0.0124 | -16 | c.372 others(33): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 6/23 | chr9 | TogoVar |