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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIO1_chr1_53889187_53916086 | 53896210 | CTTTTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG03098.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0010 | a0001c0002t0005a0001c0005t0001a0002c0010t0002 | a0001c0002t0005g0022a0001c0002t0005g0062a0001c0002t0005g0063others(3): Show | 7 | 452 | 0.0155 | -6 | c.337 others(23): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIO1_chr1_53889187_53916086 | 53898744 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(63): Show | 87 | 452 | 0.1925 | -6 | c.337 others(23): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIO2_chr14_80192526_80216504 | 80195814 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(227): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(18): Show | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0005others(61): Show | 230 | 406 | 0.5665 | -6 | c.*68 others(17): Show |
DIO2 | ENSG00000211448.14 | transcript | ENST00000438257.9 | protein_coding | 1711 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr14 | TogoVar | |||||
DIO2_chr14_80192526_80216504 | 80197134 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG02886.hp2 NA19009.hp1 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0025 | a0002c0002t0004g0006a0002c0002t0025g0114 | 3 | 406 | 0.0074 | -6 | c.*55 others(17): Show |
DIO2 | ENSG00000211448.14 | transcript | ENST00000438257.9 | protein_coding | 391 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr14 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46463680 | TTGTGTG | T | intron_variant | MODIFIER | HG02886.hp2 HG02922.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0005a0001c0027 | a0001c0005t0004a0001c0027t0004 | a0001c0005t0004g0275a0001c0005t0004g0276a0001c0005t0004g0277others(2): Show | 5 | 374 | 0.0134 | -6 | c.91+ others(21): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46464817 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00735.hp2 others(11): Show |
a0001 | a0001c0007a0001c0022 | a0001c0007t0005a0001c0022t0001 | a0001c0007t0005g0126a0001c0007t0005g0128a0001c0007t0005g0132others(11): Show | 14 | 374 | 0.0374 | -6 | c.91+ others(21): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46495223 | TCTTCTC | T | intron_variant | MODIFIER | HG02257.hp2 HG03579.hp1 NA18961.hp2 |
a0001 | a0001c0006a0001c0013a0001c0043 | a0001c0006t0007a0001c0013t0015a0001c0043t0003 | a0001c0006t0007g0173a0001c0013t0015g0148a0001c0043t0003g0373 | 3 | 374 | 0.0080 | -6 | c.284 others(23): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46525863 | CATTATT | C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01168.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0002a0001c0003t0003a0001c0003t0019others(18): Show | a0001c0001t0002g0221a0001c0001t0002g0255a0001c0003t0003g0290others(34): Show | 37 | 374 | 0.0989 | -6 | c.110 others(25): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46570309 | AATGGAC | A | downstream_gene_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01192.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(9): Show | a0001c0001t0004g0032a0001c0001t0004g0053a0001c0001t0004g0213others(37): Show | 40 | 374 | 0.1070 | -6 | c.*26 others(17): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 295 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46573645 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01433.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0004a0001c0001t0013a0001c0005t0004others(6): Show | a0001c0001t0004g0032a0001c0001t0004g0053a0001c0001t0013g0147others(9): Show | 12 | 374 | 0.0321 | -6 | c.*60 others(17): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3631 | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50516213 | ATCTCTC | A | intron_variant | MODIFIER | HG00738.hp1 HG02896.hp2 HG02897.hp2 |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0002a0003c0007t0017 | a0001c0003t0002g0067a0003c0007t0017g0093a0003c0007t0017g0094 | 3 | 284 | 0.0106 | -6 | c.100 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50537114 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00741.hp2 others(22): Show |
a0001a0002a0009 | a0001c0001a0002c0005a0009c0020 | a0001c0001t0006a0001c0001t0010a0001c0001t0011others(13): Show | a0001c0001t0006g0078a0001c0001t0010g0089a0001c0001t0010g0090others(22): Show | 25 | 284 | 0.0880 | -6 | c.100 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50559709 | CCACACA | C | intron_variant | MODIFIER | HG02258.hp2 NA18906.hp2 NA19043.hp2 |
a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0192a0001c0006t0009g0193a0001c0006t0009g0194 | 3 | 284 | 0.0106 | -6 | c.100 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50582145 | GTTTTTT | G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp2 others(62): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0021others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0031others(5): Show | a0001c0001t0001g0027a0001c0001t0001g0114a0001c0001t0001g0115others(62): Show | 65 | 284 | 0.2289 | -6 | c.101 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50600894 | TCACCAC | T | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03225.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0278a0001c0004t0005g0279a0001c0004t0005g0284 | 3 | 284 | 0.0106 | -6 | c.101 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50623392 | TACACAC | T | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01496.hp2 others(16): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0031others(3): Show | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0118others(16): Show | 19 | 284 | 0.0669 | -6 | c.101 others(23): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50623433 | ACACACT | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(36): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0033 | a0001c0001t0001g0025a0001c0001t0001g0034a0001c0001t0001g0035others(36): Show | 39 | 284 | 0.1373 | -6 | c.101 others(23): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50643405 | CTGTGTG | C | intron_variant | MODIFIER | HG02040.hp2 HG02071.hp2 HG02257.hp1 others(13): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0003a0001c0002t0004a0001c0002t0018others(3): Show | a0001c0002t0003g0263a0001c0002t0004g0186a0001c0002t0004g0210others(13): Show | 16 | 284 | 0.0563 | -6 | c.301 others(23): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50699864 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(40): Show | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0123others(142): Show | 145 | 284 | 0.5106 | -6 | c.232 others(23): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50742394 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0003a0001c0013t0003 | a0001c0002t0003g0171a0001c0002t0003g0187a0001c0002t0003g0202others(4): Show | 7 | 284 | 0.0247 | -6 | c.447 others(23): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 305972 | AATATAT | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0022others(59): Show | 62 | 88 | 0.7046 | -6 | c.398 others(25): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 32/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 379199 | CCCCCCA | C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01952.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(14): Show | 17 | 88 | 0.1932 | -6 | c.199 others(25): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 17/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 414852 | TTGTGTG | T | intron_variant | MODIFIER | HG01099.hp2 HG02040.hp1 NA19007.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0026a0001c0004t0001g0068a0001c0004t0001g0086 | 3 | 88 | 0.0341 | -6 | c.860 others(21): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 7/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 414886 | GTGTGTA | G | intron_variant | MODIFIER | HG01081.hp2 HG02132.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0002a0001c0007a0001c0009others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0080a0001c0002t0002g0067a0001c0002t0003g0082others(5): Show | 8 | 88 | 0.0909 | -6 | c.860 others(21): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 7/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477348 | GGAGGAA | G | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01099.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0048others(9): Show | 12 | 88 | 0.1364 | -6 | c.158 others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 487567 | GTTTTTT | G | intron_variant | MODIFIER | HG01258.hp1 HG02155.hp1 HG02165.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0022a0001c0001t0003g0012a0001c0001t0004g0015others(4): Show | 7 | 88 | 0.0796 | -6 | c.86- others(21): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516465 | GAAGGGA | G | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0040a0001c0003t0002g0054 | 2 | 88 | 0.0227 | -6 | c.86- others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516603 | GAAGGGA | G | intron_variant | MODIFIER | HG01081.hp2 NA20129.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076a0001c0007t0002g0077 | 2 | 88 | 0.0227 | -6 | c.86- others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 557669 | TGTGGGG | T | intron_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG02071.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0001a0001c0003t0002a0001c0007t0002 | a0001c0002t0001g0057a0001c0002t0001g0061a0001c0003t0002g0032others(5): Show | 8 | 88 | 0.0909 | -6 | c.86- others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 568793 | AAAAAAC | A | intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0001t0003g0075others(3): Show | 6 | 88 | 0.0682 | -6 | c.86- others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 603298 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG02071.hp2 HG03834.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0002t0001g0057a0001c0002t0002g0055a0001c0003t0002g0062others(4): Show | 7 | 88 | 0.0796 | -6 | c.85+ others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 619511 | TGCCAGG | T | intron_variant | MODIFIER | HG00673.hp2 HG01515.hp1 HG01934.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(13): Show | 16 | 88 | 0.1818 | -6 | c.85+ others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 633513 | CGGCCGG | C | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 NA18906.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0003a0001c0009t0001 | a0001c0002t0003g0005a0001c0002t0003g0006a0001c0009t0001g0007 | 3 | 88 | 0.0341 | -6 | c.85+ others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92846792 | CATATAT | C | intron_variant | MODIFIER | HG02055.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0186a0001c0001t0007g0190 | 2 | 200 | 0.0100 | -6 | c.474 others(21): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92869152 | CTATTAT | C | intron_variant | MODIFIER | HG02572.hp1 HG02922.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0075a0001c0004t0004g0076 | 2 | 200 | 0.0100 | -6 | c.189 others(23): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92870073 | TATACAC | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0122a0001c0001t0001g0150a0001c0001t0001g0152others(22): Show | 25 | 200 | 0.1250 | -6 | c.189 others(23): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92870075 | TACACAC | T | intron_variant | MODIFIER | HG02738.hp1 HG02922.hp1 HG03516.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(2): Show | a0001c0001t0001g0092a0001c0001t0004g0089a0001c0001t0004g0091others(4): Show | 7 | 200 | 0.0350 | -6 | c.189 others(23): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
DIPK1B_chr9_136707572_136729742 | 136719743 | GAGCCCC | G | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG03225.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0044a0002c0003t0001g0144a0002c0003t0001g0145 | 4 | 422 | 0.0095 | -6 | c.198 others(23): Show |
DIPK1B | ENSG00000165716.11 | transcript | ENST00000371692.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DIPK2B_chrX_45143373_45205876 | 45153474 | TTGTGTG | T | intron_variant | MODIFIER | HG01081.hp2 HG02647.hp1 HG02976.hp2 others(2): Show |
a0002a0007a0009others(1): Show | a0002c0002a0007c0007a0009c0011others(1): Show | a0002c0002t0002a0007c0007t0002a0009c0011t0001others(1): Show | a0002c0002t0002g0010a0007c0007t0002g0071a0009c0011t0001g0209others(1): Show | 5 | 307 | 0.0163 | -6 | c.961 others(21): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 4/4 | chrX | TogoVar | ||||||
DIPK2B_chrX_45143373_45205876 | 45187468 | GCACACA | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(80): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0114a0001c0001t0001g0133others(75): Show | 83 | 307 | 0.2704 | -6 | c.498 others(23): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
DIRAS2_chr9_90604832_90647824 | 90606688 | AAATAAT | A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01192.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0010others(27): Show | 32 | 440 | 0.0727 | -6 | c.*65 others(17): Show |
DIRAS2 | ENSG00000165023.7 | transcript | ENST00000375765.5 | protein_coding | 3143 | chr9 | TogoVar | ||||||
DIRAS2_chr9_90604832_90647824 | 90614306 | ATGTGTG | A | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01081.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0115a0001c0001t0001g0268others(14): Show | 23 | 440 | 0.0523 | -6 | c.-36 others(21): Show |
DIRAS2 | ENSG00000165023.7 | transcript | ENST00000375765.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 231966641 | ATTTTTT | A | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01257.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0002others(6): Show | a0001c0001t0001g0197a0001c0001t0001g0211a0001c0003t0001g0138others(19): Show | 22 | 304 | 0.0724 | -6 | c.-94 others(23): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 231981598 | TTATATA | T | intron_variant | MODIFIER | HG01070.hp1 HG01978.hp1 HG02015.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0120a0001c0001t0001g0135a0001c0001t0001g0136others(11): Show | 14 | 304 | 0.0461 | -6 | c.-94 others(25): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 231989339 | TTGTGTG | T | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0114a0001c0001t0001g0268a0001c0001t0004g0008others(1): Show | 4 | 304 | 0.0132 | -6 | c.-93 others(25): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232078007 | TTCTTTC | T | intron_variant | MODIFIER | HG01934.hp2 HG02647.hp1 HG03942.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0211a0001c0001t0001g0213a0002c0004t0001g0187others(2): Show | 5 | 304 | 0.0165 | -6 | c.367 others(23): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232078019 | TTTTCTC | T | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 NA18522.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0220a0001c0001t0001g0221a0001c0001t0004g0009others(5): Show | 8 | 304 | 0.0263 | -6 | c.367 others(23): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232083277 | ACCCCCC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(195): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(195): Show | 198 | 304 | 0.6513 | -6 | c.367 others(23): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232086304 | CATATGT | C | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0140a0001c0003t0001g0141a0001c0003t0001g0173others(3): Show | 6 | 304 | 0.0197 | -6 | c.367 others(23): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232086359 | GTGTATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(217): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(217): Show | 220 | 304 | 0.7237 | -6 | c.367 others(23): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |