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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHX57_chr2_38792729_38880934 | 38875912 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 HG01074.hp1 HG01123.hp2 others(3): Show |
a0002a0006 | a0002c0002a0006c0014 | a0002c0002t0004a0006c0014t0004 | a0002c0002t0004g0276a0002c0002t0004g0277a0002c0002t0004g0278others(3): Show | 6 | 284 | 0.0211 | 0 | c.-13 others(4): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 1/24 | chr2 | TogoVar | ||||||
DHX58_chr17_42096411_42117714 | 42112643 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(125): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0006others(6): Show | a0001c0001t0002a0001c0001t0005a0002c0002t0002others(10): Show | a0001c0001t0002g0077a0001c0001t0002g0087a0001c0001t0005g0097others(68): Show | 128 | 352 | 0.3636 | 0 | c.-13 others(4): Show |
DHX58 | ENSG00000108771.13 | transcript | ENST00000251642.8 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
DIABLO_chr12_122202668_122231052 | 122226035 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02258.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0053 | 2 | 380 | 0.0053 | 0 | c.-21 others(3): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
DICER1_chr14_95081228_95162529 | 95157257 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(7): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(14): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0012others(61): Show | 79 | 306 | 0.2582 | 0 | c.-73 others(3): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 1/27 | chr14 | TogoVar | ||||||
DICER1_chr14_95081228_95162529 | 95157470 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03471.hp1 HG03579.hp2 |
a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0254a0001c0004t0022g0255 | 2 | 306 | 0.0065 | 0 | c.-28 others(4): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 1/27 | chr14 | TogoVar | ||||||
DICER1_chr14_95081228_95162529 | 95157502 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00642.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0256a0001c0001t0023g0257 | 2 | 306 | 0.0065 | 0 | c.-31 others(4): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 1/27 | chr14 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62914394 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01433.hp1 HG02451.hp1 HG02615.hp1 others(3): Show |
a0002a0006a0013 | a0002c0015a0006c0010a0013c0030 | a0002c0015t0004a0006c0010t0004a0013c0030t0016 | a0002c0015t0004g0039a0006c0010t0004g0036a0006c0010t0004g0037others(3): Show | 6 | 320 | 0.0188 | 0 | c.-18 others(4): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46459004 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0252 | 1 | 374 | 0.0027 | 0 | c.-12 others(4): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/38 | chr21 | TogoVar | ||||||
DIPK1C_chr18_74429775_74462308 | 74457280 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0381 | 1 | 484 | 0.0021 | 0 | c.-21 others(3): Show |
DIPK1C | ENSG00000187773.9 | transcript | ENST00000343998.8 | protein_coding | 1/4 | chr18 | TogoVar | ||||||
DIPK2A_chr3_143966823_143997368 | 143971850 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01123.hp2 HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0152a0001c0001t0013g0153a0001c0001t0013g0154 | 3 | 408 | 0.0074 | 0 | c.-48 others(4): Show |
DIPK2A | ENSG00000181744.9 | transcript | ENST00000315691.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
DIPK2A_chr3_143966823_143997368 | 143972074 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00621.hp1 HG02071.hp1 HG02155.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0022a0001c0003t0008g0023a0001c0003t0008g0024others(5): Show | 11 | 408 | 0.0270 | 0 | c.-25 others(4): Show |
DIPK2A | ENSG00000181744.9 | transcript | ENST00000315691.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11479169 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp1 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0342a0001c0005t0015g0343 | 2 | 358 | 0.0056 | 0 | c.-20 others(4): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 1/21 | chr1 | TogoVar | ||||||
DKK2_chr4_106916802_107041313 | 107035668 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0210 | 1 | 218 | 0.0046 | 0 | c.-77 others(3): Show |
DKK2 | ENSG00000155011.9 | transcript | ENST00000285311.8 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13500078 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0004a0001c0011others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0006a0001c0001t0001g0047a0001c0001t0001g0059others(139): Show | 142 | 212 | 0.6698 | 0 | c.-7C others(2): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/18 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13514611 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00423.hp2 HG01081.hp1 HG02647.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0012a0001c0011t0020a0002c0002t0050others(3): Show | a0001c0001t0012g0205a0001c0001t0012g0207a0001c0001t0012g0208others(6): Show | 9 | 212 | 0.0425 | 0 | c.-13 others(4): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13514669 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01981.hp1 | a0003 | a0003c0029 | a0003c0029t0052 | a0003c0029t0052g0211 | 1 | 212 | 0.0047 | 0 | c.-19 others(4): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 85626648 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 14 | 0.0714 | 0 | c.-15 others(4): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 2/28 | chr11 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77926700 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02717.hp1 | a0001 | a0001c0055 | a0001c0055t0029 | a0001c0055t0029g0325 | 1 | 331 | 0.0030 | 0 | c.-18 others(4): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4005122 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG01106.hp1 HG01192.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0027others(16): Show | a0001c0001t0009g0020a0001c0001t0010g0029a0001c0001t0027g0024others(16): Show | 19 | 80 | 0.2375 | 0 | c.-79 others(3): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/13 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4455132 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0042 | a0001c0001t0041g0079a0001c0001t0042g0080 | 2 | 80 | 0.0250 | 0 | c.-39 others(4): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/13 | chr18 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36367245 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0112 | 1 | 144 | 0.0069 | 0 | c.-10 others(4): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/13 | chr20 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55191541 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp1 HG00735.hp1 HG01070.hp1 others(35): Show |
a0003 | a0003c0005a0003c0012 | a0003c0005t0002a0003c0012t0002 | a0003c0005t0002g0305a0003c0005t0002g0306a0003c0005t0002g0307others(35): Show | 38 | 362 | 0.1050 | 0 | c.-80 others(3): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 1/19 | chr14 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55191557 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp1 HG02109.hp1 HG02615.hp2 others(5): Show |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0019a0002c0004t0003g0020a0002c0004t0003g0021others(5): Show | 8 | 362 | 0.0221 | 0 | c.-96 others(3): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 1/19 | chr14 | TogoVar | ||||||
DLL1_chr6_170277206_170296078 | 170290373 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03453.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0011a0001c0023t0012 | a0001c0001t0011g0108a0001c0023t0012g0109 | 2 | 413 | 0.0048 | 0 | c.-23 others(4): Show |
DLL1 | ENSG00000198719.9 | transcript | ENST00000366756.4 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
DLX3_chr17_49985005_50000224 | 49995062 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(210): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0012a0001c0002t0002a0001c0002t0004others(34): Show | a0001c0001t0012g0039a0001c0002t0002g0002a0001c0002t0002g0029others(52): Show | 213 | 438 | 0.4863 | 0 | c.-64 others(3): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38570057 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 324 | 0.0031 | 0 | c.-48 others(3): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38570082 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 324 | 0.0031 | 0 | c.-73 others(3): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38570101 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 324 | 0.0031 | 0 | c.-92 others(3): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
DMRT3_chr9_971655_996732 | 976704 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0166 | 1 | 458 | 0.0022 | 0 | c.-29 others(4): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
DMRT3_chr9_971655_996732 | 976848 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0181 | 1 | 458 | 0.0022 | 0 | c.-15 others(4): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
DMRTA1_chr9_22441824_22460740 | 22446829 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0044a0001c0002t0003a0001c0002t0004others(20): Show | a0001c0001t0044g0031a0001c0002t0003g0003a0001c0002t0004g0004others(22): Show | 126 | 412 | 0.3058 | 0 | c.-23 others(4): Show |
DMRTA1 | ENSG00000176399.4 | transcript | ENST00000325870.3 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
DMRTA1_chr9_22441824_22460740 | 22446942 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02280.hp1 HG02451.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0004 | 5 | 412 | 0.0121 | 0 | c.-12 others(4): Show |
DMRTA1 | ENSG00000176399.4 | transcript | ENST00000325870.3 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72776997 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0020 | 1 | 26 | 0.0385 | 0 | c.-34 others(4): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72777012 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp1 HG01256.hp2 HG02896.hp2 |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0004a0001c0001t0019a0005c0003t0004 | a0001c0001t0004g0019a0001c0001t0019g0020a0005c0003t0004g0024 | 3 | 26 | 0.1154 | 0 | c.-33 others(4): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72777098 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01167.hp1 | a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0025 | 1 | 26 | 0.0385 | 0 | c.-24 others(4): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72943799 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 54 | 0.0185 | 0 | c.-31 others(4): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72943808 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0050 | 1 | 54 | 0.0185 | 0 | c.-32 others(4): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72943811 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0023 | 1 | 54 | 0.0185 | 0 | c.-33 others(4): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72943814 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0052 | 1 | 54 | 0.0185 | 0 | c.-33 others(4): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72943817 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 54 | 0.0185 | 0 | c.-33 others(4): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72943823 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0050 | 1 | 54 | 0.0185 | 0 | c.-34 others(4): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72943829 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0052 | 1 | 54 | 0.0185 | 0 | c.-34 others(4): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55166609 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18945.hp2 NA18949.hp2 NA18951.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021a0001c0001t0002g0058a0001c0001t0002g0166 | 7 | 398 | 0.0176 | 0 | c.-91 others(3): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55498342 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp1 HG02559.hp2 HG02970.hp2 others(4): Show |
a0004a0005 | a0004c0005a0005c0004 | a0004c0005t0005a0004c0005t0007a0005c0004t0005 | a0004c0005t0005g0286a0004c0005t0005g0287a0004c0005t0005g0288others(4): Show | 7 | 338 | 0.0207 | 0 | c.-13 others(3): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
DNAAF8_chr16_4729537_4754396 | 4734593 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp2 HG02109.hp1 HG02280.hp2 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0008a0004c0004t0003g0069a0004c0004t0003g0070others(8): Show | 18 | 386 | 0.0466 | 0 | c.-15 others(4): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
DNAAF8_chr16_4729537_4754396 | 4734633 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0013a0002c0002others(12): Show | a0001c0001t0006a0001c0013t0006a0002c0002t0001others(16): Show | a0001c0001t0006g0165a0001c0013t0006g0108a0001c0013t0006g0109others(99): Show | 199 | 386 | 0.5155 | 0 | c.-11 others(4): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3407619 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0038 | a0001c0003t0038g0359 | 1 | 362 | 0.0028 | 0 | c.-62 others(3): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/37 | chr20 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7718197 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01928.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0296 | 1 | 316 | 0.0032 | 0 | c.-61 others(4): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 1/86 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7718243 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(61): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0003a0001c0002t0003a0001c0005t0003others(46): Show | a0001c0001t0003g0289a0001c0002t0003g0279a0001c0005t0003g0285others(61): Show | 64 | 316 | 0.2025 | 0 | c.-57 others(4): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 1/86 | chr17 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13944446 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03927.hp1 | a0119 | a0119c0149 | a0119c0149t0022 | a0119c0149t0022g0232 | 1 | 252 | 0.0040 | 0 | c.-8C others(2): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 1/79 | chr5 | TogoVar |