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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 271017 | ACCTCT | A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01258.hp2 HG01515.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0033a0001c0001t0001g0034others(7): Show | 10 | 88 | 0.1136 | -5 | c.*63 others(16): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3183 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 304567 | ACACAC | A | intron_variant | MODIFIER | HG01934.hp2 HG01981.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0002 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0017t0002g0064 | 3 | 88 | 0.0341 | -5 | c.398 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 32/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 345935 | ATACAC | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0008a0001c0001t0003g0085a0001c0002t0001g0031others(17): Show | 20 | 88 | 0.2273 | -5 | c.323 others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 346168 | CACCCA | C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0003g0085a0001c0002t0001g0031a0001c0002t0001g0056others(16): Show | 19 | 88 | 0.2159 | -5 | c.323 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 346451 | CACCCA | C | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01081.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0023others(36): Show | 39 | 88 | 0.4432 | -5 | c.323 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 346590 | CACCCA | C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0003g0085a0001c0002t0001g0031a0001c0002t0001g0056others(16): Show | 19 | 88 | 0.2159 | -5 | c.323 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 346638 | CACCCA | C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0003g0085a0001c0002t0001g0031a0001c0002t0001g0056others(16): Show | 19 | 88 | 0.2159 | -5 | c.323 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 346686 | CACCCA | C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0023others(57): Show | 60 | 88 | 0.6818 | -5 | c.323 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 347755 | ATACAC | A | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001a0001c0005t0002 | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0005t0001g0009others(1): Show | 4 | 88 | 0.0455 | -5 | c.323 others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 372074 | CTTTTT | C | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02027.hp2 others(10): Show |
a0001 | a0001c0003a0001c0004a0001c0009others(2): Show | a0001c0003t0002a0001c0004t0003a0001c0009t0001others(3): Show | a0001c0003t0002g0021a0001c0003t0002g0032a0001c0003t0002g0040others(10): Show | 13 | 88 | 0.1477 | -5 | c.199 others(24): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 17/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477448 | GTGGAT | G | intron_variant | MODIFIER | HG01258.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0012a0001c0004t0003g0039 | 2 | 88 | 0.0227 | -5 | c.158 others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478201 | GAAGAA | G | intron_variant | MODIFIER | HG00609.hp1 HG01934.hp1 HG02300.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0011 | a0001c0002t0001a0001c0002t0003a0001c0003t0002others(1): Show | a0001c0002t0001g0031a0001c0002t0003g0030a0001c0002t0003g0043others(3): Show | 6 | 88 | 0.0682 | -5 | c.158 others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478263 | AGAAGG | A | intron_variant | MODIFIER | HG00609.hp2 HG02922.hp1 |
a0001 | a0001c0003a0001c0021 | a0001c0003t0002a0001c0021t0002 | a0001c0003t0002g0062a0001c0021t0002g0081 | 2 | 88 | 0.0227 | -5 | c.158 others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478316 | GAAGAA | G | intron_variant | MODIFIER | HG00621.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0022 | a0001c0002t0003a0001c0022t0003 | a0001c0002t0003g0059a0001c0022t0003g0002 | 2 | 88 | 0.0227 | -5 | c.158 others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 487567 | GTTTTT | G | intron_variant | MODIFIER | HG00597.hp2 HG01515.hp1 HG01952.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0003a0001c0001t0005a0001c0005t0002others(1): Show | a0001c0001t0003g0075a0001c0001t0005g0024a0001c0005t0002g0016others(3): Show | 6 | 88 | 0.0682 | -5 | c.86- others(20): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516546 | AGGGAG | A | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp2 NA19074.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0056a0001c0002t0003g0029a0001c0002t0003g0042 | 3 | 88 | 0.0341 | -5 | c.86- others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 596496 | CAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 HG02155.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0002others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0079a0001c0002t0003g0029others(2): Show | 5 | 88 | 0.0568 | -5 | c.85+ others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 603298 | CAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG01952.hp1 HG01975.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0056a0001c0002t0001g0066a0001c0002t0002g0067others(10): Show | 13 | 88 | 0.1477 | -5 | c.85+ others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 608184 | CACACA | C | intron_variant | MODIFIER | HG01934.hp1 HG02071.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028a0001c0002t0001g0031 | 2 | 88 | 0.0227 | -5 | c.85+ others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 608188 | CACACA | C | intron_variant | MODIFIER | HG00597.hp2 HG01952.hp2 HG02004.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0022a0001c0001t0004g0015a0001c0001t0005g0024others(7): Show | 10 | 88 | 0.1136 | -5 | c.85+ others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 668489 | TACAAC | T | intron_variant | MODIFIER | HG00597.hp2 HG01952.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0005a0001c0008 | a0001c0005t0002a0001c0008t0001 | a0001c0005t0002g0016a0001c0005t0002g0017a0001c0008t0001g0018others(1): Show | 4 | 88 | 0.0455 | -5 | c.85+ others(22): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92845292 | GTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(135): Show | 138 | 200 | 0.6900 | -5 | c.475 others(22): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92959902 | ACTTTT | A | intron_variant | MODIFIER | HG03710.hp1 HG04115.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0029 | 3 | 200 | 0.0150 | -5 | c.54+ others(20): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92962512 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0093a0001c0001t0005g0094a0001c0001t0005g0097others(5): Show | 8 | 200 | 0.0400 | -5 | c.-10 others(16): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1051 | chr1 | TogoVar | ||||||
DIPK1B_chr9_136707572_136729742 | 136726535 | GCGTAC | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(222): Show | 387 | 422 | 0.9171 | -5 | c.*27 others(16): Show |
DIPK1B | ENSG00000165716.11 | transcript | ENST00000371692.9 | protein_coding | 1794 | chr9 | TogoVar | ||||||
DIPK2A_chr3_143966823_143997368 | 143967802 | GCTTTT | G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0052a0001c0001t0007g0244a0001c0001t0007g0245others(5): Show | 9 | 408 | 0.0221 | -5 | c.-45 others(16): Show |
DIPK2A | ENSG00000181744.9 | transcript | ENST00000315691.8 | protein_coding | 4020 | chr3 | TogoVar | ||||||
DIPK2B_chrX_45143373_45205876 | 45154332 | TCAATC | T | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0249 | 1 | 307 | 0.0033 | -5 | c.673 others(20): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 3/4 | chrX | TogoVar | ||||||
DIPK2B_chrX_45143373_45205876 | 45155961 | CTTTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02622.hp1 others(8): Show |
a0003a0005a0011others(1): Show | a0003c0003a0005c0004a0011c0009others(1): Show | a0003c0003t0009a0003c0003t0016a0005c0004t0009others(2): Show | a0003c0003t0009g0042a0003c0003t0009g0100a0003c0003t0009g0112others(7): Show | 11 | 307 | 0.0358 | -5 | c.672 others(22): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 3/4 | chrX | TogoVar | ||||||
DIPK2B_chrX_45143373_45205876 | 45170243 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01891.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0001a0002c0002t0011others(1): Show | a0001c0001t0011g0237a0001c0001t0011g0238a0002c0002t0001g0276others(4): Show | 7 | 307 | 0.0228 | -5 | c.499 others(24): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2721437 | TCCGCC | T | upstream_gene_variant | MODIFIER | HG01258.hp1 HG03041.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0025 | a0001c0001t0003g0080a0001c0001t0017g0043a0001c0001t0025g0044 | 3 | 412 | 0.0073 | -5 | c.-20 others(14): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 66 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2725263 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01891.hp1 HG02040.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0018others(4): Show | a0001c0001t0003g0003a0001c0001t0003g0012a0001c0001t0004g0005others(7): Show | 11 | 412 | 0.0267 | -5 | c.-40 others(16): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 3892 | chr19 | TogoVar | ||||||
DIRAS2_chr9_90604832_90647824 | 90624397 | CTTGTA | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG02698.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019a0001c0001t0006g0020a0001c0001t0006g0021others(18): Show | 28 | 440 | 0.0636 | -5 | c.-36 others(24): Show |
DIRAS2 | ENSG00000165023.7 | transcript | ENST00000375765.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 231966641 | ATTTTT | A | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01123.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0164a0001c0001t0001g0200a0001c0001t0001g0204others(32): Show | 35 | 304 | 0.1151 | -5 | c.-94 others(22): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 231996684 | ATATCT | A | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0134 | 3 | 304 | 0.0099 | -5 | c.-93 others(24): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232000658 | CTTTCT | C | intron_variant | MODIFIER | HG02486.hp1 HG02896.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0135others(1): Show | 4 | 304 | 0.0132 | -5 | c.-93 others(24): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232078036 | TCTTTC | T | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01934.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0005others(1): Show | a0001c0001t0001a0002c0004t0001a0002c0005t0002others(1): Show | a0001c0001t0001g0145a0001c0001t0001g0207a0001c0001t0001g0211others(12): Show | 15 | 304 | 0.0493 | -5 | c.367 others(22): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232083277 | ACCCCC | A | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00597.hp2 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0040others(68): Show | 71 | 304 | 0.2336 | -5 | c.367 others(22): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232096727 | TATGTC | T | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(60): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(60): Show | 63 | 304 | 0.2072 | -5 | c.601 others(22): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232247613 | CCGCGG | C | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01109.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004others(2): Show | a0001c0001t0001a0001c0009t0002a0002c0004t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0125others(17): Show | 20 | 304 | 0.0658 | -5 | c.131 others(24): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 11/20 | chr2 | TogoVar | ||||||
DIS3_chr13_72747169_72786900 | 72753868 | TATAAA | T | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02486.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0049a0002c0002t0029 | a0001c0001t0049g0108a0002c0002t0029g0192a0002c0002t0029g0220 | 3 | 422 | 0.0071 | -5 | c.*59 others(16): Show |
DIS3 | ENSG00000083520.15 | transcript | ENST00000377767.9 | protein_coding | 21/21 | 5922 | chr13 | TogoVar | |||||
DIS3_chr13_72747169_72786900 | 72766104 | AAAGAC | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0056a0001c0001t0057 | a0001c0001t0055g0161a0001c0001t0056g0131a0001c0001t0057g0224 | 3 | 422 | 0.0071 | -5 | c.188 others(20): Show |
DIS3 | ENSG00000083520.15 | transcript | ENST00000377767.9 | protein_coding | 14/20 | chr13 | TogoVar | ||||||
DIS3_chr13_72747169_72786900 | 72769722 | CTTATT | C | intron_variant | MODIFIER | HG00735.hp1 HG02572.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0058 | a0001c0001t0027g0070a0001c0001t0027g0071a0001c0001t0058g0223 | 3 | 422 | 0.0071 | -5 | c.175 others(22): Show |
DIS3 | ENSG00000083520.15 | transcript | ENST00000377767.9 | protein_coding | 13/20 | chr13 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231785244 | TGTGTG | T | intron_variant | MODIFIER | HG00673.hp2 HG01261.hp1 HG02273.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0032a0001c0001t0004g0038a0001c0001t0007g0013others(5): Show | 8 | 40 | 0.2000 | -5 | c.163 others(24): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 232026762 | CTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01261.hp2 HG01496.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0012others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(11): Show | a0001c0001t0004g0038a0001c0001t0005g0001a0001c0001t0010g0024others(11): Show | 14 | 40 | 0.3500 | -5 | c.242 others(22): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISC1_chr1_231621790_232046272 | 232031495 | AGAAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG04204.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0004a0003c0002t0004 | a0001c0001t0004g0038a0003c0002t0004g0017 | 2 | 40 | 0.0500 | -5 | c.242 others(24): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP1_chr1_222810039_223010995 | 222840724 | GGCTAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp2 others(22): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(9): Show | a0001c0001t0001g0249a0001c0001t0001g0250a0001c0001t0001g0267others(22): Show | 25 | 348 | 0.0718 | -5 | c.-15 others(26): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222914661 | ATAAGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(137): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(23): Show | a0001c0001t0001g0242a0001c0001t0001g0276a0001c0001t0001g0277others(136): Show | 140 | 348 | 0.4023 | -5 | c.-15 others(26): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP1_chr1_222810039_223010995 | 222939355 | ATTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(31): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0016a0001c0020others(8): Show | a0001c0001t0001a0001c0016t0001a0001c0020t0001others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0091a0001c0001t0001g0096others(31): Show | 34 | 348 | 0.0977 | -5 | c.-17 others(22): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP1_chr1_222810039_223010995 | 222970209 | AGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01074.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0015 | a0001c0001t0001a0003c0015t0001 | a0001c0001t0001g0094a0001c0001t0001g0110a0001c0001t0001g0142others(4): Show | 7 | 348 | 0.0201 | -5 | c.510 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222979440 | AAAATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp1 others(85): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(15): Show | a0001c0001t0001g0242a0001c0002t0001g0073a0001c0002t0001g0074others(85): Show | 88 | 348 | 0.2529 | -5 | c.510 others(22): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |