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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAZ1_chrY_23124355_23204008 | 23182138 | AAAT | A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 63 | 0.0159 | -3 | c.499 others(18): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 6/27 | chrY | TogoVar | ||||||
DAZ1_chrY_23124355_23204008 | 23197757 | ACTC | A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 63 | 0.0159 | -3 | c.3+1 others(16): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 1/27 | chrY | TogoVar | ||||||
DAZ1_chrY_23124355_23204008 | 23198752 | TGAA | T | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 63 | 0.0159 | -3 | c.3+4 others(12): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 1/27 | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23220775 | AAGG | A | intron_variant | MODIFIER | HG02040.hp1 HG02572.hp1 HG03098.hp1 others(1): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0011 | a0001c0001t0001a0002c0002t0001a0008c0011t0001 | a0001c0001t0001g0052a0002c0002t0001g0047a0002c0002t0001g0048others(1): Show | 4 | 54 | 0.0741 | -3 | c.3+1 others(16): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23242573 | ATGT | A | intron_variant | MODIFIER | HG01099.hp1 HG03710.hp1 |
a0004 | a0004c0006a0004c0008 | a0004c0006t0001a0004c0008t0001 | a0004c0006t0001g0027a0004c0008t0001g0017 | 2 | 54 | 0.0370 | -3 | c.930 others(18): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23243039 | TTTC | T | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 54 | 0.0185 | -3 | c.931 others(18): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 12/27 | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23250920 | ATTC | A | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01243.hp1 others(7): Show |
a0003a0004a0010others(1): Show | a0003c0003a0004c0006a0004c0008others(2): Show | a0003c0003t0001a0004c0006t0001a0004c0008t0001others(2): Show | a0003c0003t0001g0008a0003c0003t0001g0009a0003c0003t0001g0010others(7): Show | 10 | 54 | 0.1852 | -3 | c.114 others(20): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23296281 | ATTG | A | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 54 | 0.0185 | -3 | c.*68 others(14): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 4926 | chrY | TogoVar | ||||||
DAZ3_chrY_24758069_24818393 | 24767933 | CTTT | C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 45 | 0.0222 | -3 | c.*35 others(18): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 18/18 | chrY | TogoVar | ||||||
DAZ3_chrY_24758069_24818393 | 24797132 | GAAT | G | intron_variant | MODIFIER | HG00140.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0006 | 1 | 45 | 0.0222 | -3 | c.715 others(20): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 9/18 | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24907070 | ATGG | A | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 41 | 0.0244 | -3 | c.*19 others(14): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 31 | chrY | TogoVar | ||||||
DAZAP1_chr19_1402586_1440684 | 1403175 | ATTT | A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG01192.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0231a0001c0001t0001g0292a0001c0001t0001g0296others(29): Show | 34 | 374 | 0.0909 | -3 | c.-45 others(14): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4410 | chr19 | TogoVar | ||||||
DAZAP1_chr19_1402586_1440684 | 1403952 | CGGG | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01106.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0231a0001c0001t0001g0292a0001c0001t0001g0296others(30): Show | 35 | 374 | 0.0936 | -3 | c.-38 others(14): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 3633 | chr19 | TogoVar | ||||||
DAZAP1_chr19_1402586_1440684 | 1407619 | AGCC | A | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG00733.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0012a0001c0001t0020others(5): Show | a0001c0001t0009g0004a0001c0001t0009g0006a0001c0001t0009g0063others(27): Show | 34 | 374 | 0.0909 | -3 | c.-11 others(12): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 1/12 | 112 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
DAZAP1_chr19_1402586_1440684 | 1409682 | AGTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0054others(84): Show | 90 | 374 | 0.2406 | -3 | c.29+ others(18): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DAZAP2_chr12_51233826_51248933 | 51248900 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0026others(13): Show | 89 | 438 | 0.2032 | -3 | c.*64 others(14): Show |
DAZAP2 | ENSG00000183283.16 | transcript | ENST00000412716.8 | protein_coding | 4968 | chr12 | TogoVar | ||||||
DAZL_chr3_16581792_16610423 | 16586310 | TAGA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(337): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(115): Show | 340 | 446 | 0.7623 | -3 | c.*23 others(14): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 481 | chr3 | TogoVar | ||||||
DAZL_chr3_16581792_16610423 | 16598375 | CCTT | C | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0035 | 3 | 446 | 0.0067 | -3 | c.150 others(16): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
DAZL_chr3_16581792_16610423 | 16599192 | AAAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0009others(30): Show | 127 | 446 | 0.2848 | -3 | c.4-5 others(14): Show |
DAZL | ENSG00000092345.14 | transcript | ENST00000399444.7 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
DBF4B_chr17_44703665_44757264 | 44715812 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0056a0001c0001t0001g0058others(82): Show | 86 | 288 | 0.2986 | -3 | c.82+ others(18): Show |
DBF4B | ENSG00000161692.18 | transcript | ENST00000315005.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DBF4B_chr17_44703665_44757264 | 44729105 | AAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00639.hp1 others(49): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0008 | a0001c0001t0002a0003c0004t0002a0006c0008t0002 | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0007others(49): Show | 52 | 288 | 0.1806 | -3 | c.226 others(18): Show |
DBF4B | ENSG00000161692.18 | transcript | ENST00000315005.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DBF4B_chr17_44703665_44757264 | 44746053 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0103others(152): Show | 156 | 288 | 0.5417 | -3 | c.831 others(20): Show |
DBF4B | ENSG00000161692.18 | transcript | ENST00000315005.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DBF4B_chr17_44703665_44757264 | 44755673 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp2 others(78): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0104a0001c0001t0001g0106a0001c0001t0001g0107others(78): Show | 81 | 288 | 0.2813 | -3 | c.*44 others(14): Show |
DBF4B | ENSG00000161692.18 | transcript | ENST00000315005.8 | protein_coding | 3410 | chr17 | TogoVar | ||||||
DBF4_chr7_87871493_87914553 | 87901167 | AAAG | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0028a0001c0001t0001g0110others(1): Show | 7 | 292 | 0.0240 | -3 | c.924 others(18): Show |
DBF4 | ENSG00000006634.8 | transcript | ENST00000265728.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DBH_chr9_133631363_133664329 | 133639226 | CAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01192.hp1 others(21): Show |
a0001a0003a0004others(1): Show | a0001c0004a0001c0005a0003c0011others(3): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0013others(9): Show | a0001c0004t0001g0044a0001c0004t0001g0067a0001c0004t0001g0081others(20): Show | 24 | 402 | 0.0597 | -3 | c.340 others(18): Show |
DBH | ENSG00000123454.12 | transcript | ENST00000393056.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DBH_chr9_133631363_133664329 | 133650431 | TTCC | T | intron_variant | MODIFIER | HG01167.hp1 HG01257.hp2 HG01258.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(4): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(8): Show | a0001c0001t0001g0110a0001c0001t0001g0159a0001c0001t0001g0257others(21): Show | 25 | 402 | 0.0622 | -3 | c.119 others(22): Show |
DBH | ENSG00000123454.12 | transcript | ENST00000393056.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DBH_chr9_133631363_133664329 | 133657448 | AGAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01496.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0003g0165a0001c0001t0003g0264a0001c0002t0002g0247others(24): Show | 32 | 402 | 0.0796 | -3 | c.172 others(20): Show |
DBH | ENSG00000123454.12 | transcript | ENST00000393056.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DBH_chr9_133631363_133664329 | 133661347 | AAAC | A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01516.hp1 HG01884.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0005a0002c0003others(2): Show | a0001c0004t0001a0001c0004t0013a0001c0005t0001others(4): Show | a0001c0004t0001g0005a0001c0004t0013g0199a0001c0005t0001g0168others(5): Show | 8 | 402 | 0.0199 | -3 | c.*29 others(14): Show |
DBH | ENSG00000123454.12 | transcript | ENST00000393056.8 | protein_coding | 2019 | chr9 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90001762 | ACAG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp1 others(88): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0026a0001c0001t0001g0054others(80): Show | 91 | 412 | 0.2209 | -3 | c.*45 others(14): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3108 | chr16 | TogoVar | ||||||
DBNDD2_chr20_45403289_45415607 | 45414206 | AAGT | A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 4 | 416 | 0.0096 | -3 | c.*40 others(14): Show |
DBNDD2 | ENSG00000244274.9 | transcript | ENST00000372710.5 | protein_coding | 3600 | chr20 | TogoVar | ||||||
DBNL_chr7_44039702_44074456 | 44043045 | ATAC | A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01243.hp1 others(30): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0007a0001c0002t0009a0001c0002t0011others(6): Show | a0001c0002t0007g0015a0001c0002t0007g0021a0001c0002t0007g0111others(12): Show | 33 | 380 | 0.0868 | -3 | c.-16 others(14): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1656 | chr7 | TogoVar | ||||||
DBNL_chr7_44039702_44074456 | 44069828 | GAGA | G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0047 | a0001c0002t0019g0019a0001c0002t0047g0019 | 4 | 380 | 0.0105 | -3 | c.*89 others(14): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 373 | chr7 | TogoVar | ||||||
DBNL_chr7_44039702_44074456 | 44070954 | TAAA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00738.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0016a0001c0002t0025others(2): Show | a0001c0002t0008g0007a0001c0002t0008g0012a0001c0002t0008g0049others(7): Show | 18 | 380 | 0.0474 | -3 | c.*10 others(16): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1499 | chr7 | TogoVar | ||||||
DBP_chr19_48625030_48642379 | 48626814 | CCAA | C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG02280.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0003g0005 | 5 | 388 | 0.0129 | -3 | c.*40 others(14): Show |
DBP | ENSG00000105516.11 | transcript | ENST00000222122.10 | protein_coding | 3215 | chr19 | TogoVar | ||||||
DBP_chr19_48625030_48642379 | 48638374 | TGGG | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0021a0001c0001t0001g0042a0001c0001t0002g0003others(8): Show | 72 | 388 | 0.1856 | -3 | c.-13 others(14): Show |
DBP | ENSG00000105516.11 | transcript | ENST00000222122.10 | protein_coding | 996 | chr19 | TogoVar | ||||||
DBR1_chr3_138155988_138179921 | 138171475 | CAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01256.hp2 HG01258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0006 | a0001c0001t0001g0018a0001c0003t0002g0014a0001c0003t0006g0109others(2): Show | 10 | 370 | 0.0270 | -3 | c.403 others(18): Show |
DBR1 | ENSG00000138231.14 | transcript | ENST00000260803.9 | protein_coding | 3/7 | chr3 | TogoVar | ||||||
DBR1_chr3_138155988_138179921 | 138175904 | TGTG | T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG01952.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0063others(6): Show | 17 | 370 | 0.0460 | -3 | c.-11 others(14): Show |
DBR1 | ENSG00000138231.14 | transcript | ENST00000260803.9 | protein_coding | 984 | chr3 | TogoVar | ||||||
DBR1_chr3_138155988_138179921 | 138178812 | AAAG | A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002a0001c0002t0002g0030a0001c0002t0002g0046others(1): Show | 7 | 370 | 0.0189 | -3 | c.-40 others(14): Show |
DBR1 | ENSG00000138231.14 | transcript | ENST00000260803.9 | protein_coding | 3892 | chr3 | TogoVar | ||||||
DBT_chr1_100181919_100254834 | 100210325 | TAAG | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0027others(51): Show | 55 | 222 | 0.2478 | -3 | c.101 others(20): Show |
DBT | ENSG00000137992.15 | transcript | ENST00000370132.8 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
DBT_chr1_100181919_100254834 | 100210349 | TAAG | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01261.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0066 | a0001c0001t0002g0094a0001c0001t0005g0086a0001c0001t0005g0118others(6): Show | 9 | 222 | 0.0405 | -3 | c.101 others(20): Show |
DBT | ENSG00000137992.15 | transcript | ENST00000370132.8 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
DBT_chr1_100181919_100254834 | 100226283 | CTTT | C | intron_variant | MODIFIER | HG01257.hp2 HG01261.hp2 HG01496.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0002g0110others(8): Show | 12 | 222 | 0.0541 | -3 | c.433 others(20): Show |
DBT | ENSG00000137992.15 | transcript | ENST00000370132.8 | protein_coding | 4/10 | chr1 | TogoVar | ||||||
DBT_chr1_100181919_100254834 | 100232292 | GGTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(152): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0027others(150): Show | 155 | 222 | 0.6982 | -3 | c.252 others(20): Show |
DBT | ENSG00000137992.15 | transcript | ENST00000370132.8 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
DBT_chr1_100181919_100254834 | 100238106 | CCCT | C | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG03139.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0084a0005c0005t0085a0005c0005t0086 | a0001c0001t0084g0062a0005c0005t0085g0060a0005c0005t0086g0061 | 3 | 222 | 0.0135 | -3 | c.176 others(20): Show |
DBT | ENSG00000137992.15 | transcript | ENST00000370132.8 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
DBT_chr1_100181919_100254834 | 100239851 | CAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0024a0001c0001t0083others(1): Show | a0001c0001t0019g0210a0001c0001t0019g0212a0001c0001t0019g0216others(3): Show | 6 | 222 | 0.0270 | -3 | c.175 others(18): Show |
DBT | ENSG00000137992.15 | transcript | ENST00000370132.8 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
DBT_chr1_100181919_100254834 | 100241367 | TGTG | T | intron_variant | MODIFIER | HG01891.hp1 HG02965.hp2 |
a0003 | a0003c0003 | a0003c0003t0022 | a0003c0003t0022g0078a0003c0003t0022g0079 | 2 | 222 | 0.0090 | -3 | c.52- others(16): Show |
DBT | ENSG00000137992.15 | transcript | ENST00000370132.8 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
DBT_chr1_100181919_100254834 | 100244743 | AATT | A | intron_variant | MODIFIER | HG01123.hp2 HG01346.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0204a0001c0001t0017g0205a0001c0001t0017g0206 | 3 | 222 | 0.0135 | -3 | c.52- others(18): Show |
DBT | ENSG00000137992.15 | transcript | ENST00000370132.8 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
DBX1_chr11_20151155_20165475 | 20158203 | ATGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(277): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(38): Show | 280 | 480 | 0.5833 | -3 | c.470 others(18): Show |
DBX1 | ENSG00000109851.7 | transcript | ENST00000524983.3 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
DBX1_chr11_20151155_20165475 | 20159199 | TAAG | T | disruptive_inframe_deletion | MODERATE | HG01496.hp2 HG01884.hp1 HG01884.hp2 others(12): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0014a0003c0004t0002g0021a0003c0004t0002g0042others(1): Show | 15 | 480 | 0.0313 | -3 | c.458 others(10): Show |
p.Ser others(6): Show |
DBX1 | ENSG00000109851.7 | transcript | ENST00000524983.3 | protein_coding | 2/4 | 611/1242 | 458/1032 | 153/343 | chr11 | TogoVar | ||
DBX2_chr12_45009672_45056099 | 45054185 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00621.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0055others(16): Show | 22 | 416 | 0.0529 | -3 | c.-32 others(14): Show |
DBX2 | ENSG00000185610.6 | transcript | ENST00000332700.6 | protein_coding | 3087 | chr12 | TogoVar | ||||||
DCAF10_chr9_37795797_37872664 | 37811291 | CACT | C | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01168.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0015others(7): Show | a0001c0001t0005g0016a0001c0001t0005g0018a0001c0001t0005g0020others(27): Show | 30 | 356 | 0.0843 | -3 | c.540 others(20): Show |
DCAF10 | ENSG00000122741.16 | transcript | ENST00000377724.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |