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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DACH2_chrX_86143451_86837602 | 86635328 | TAAAAAA | T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 166 | 0.0060 | -6 | c.641 others(25): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86637206 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00639.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022a0001c0001t0001g0029a0001c0001t0001g0046others(23): Show | 26 | 166 | 0.1566 | -6 | c.641 others(25): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86650255 | TTATAAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00639.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022a0001c0001t0001g0029a0001c0001t0001g0035others(31): Show | 34 | 166 | 0.2048 | -6 | c.641 others(21): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86656855 | GTGTATA | G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 166 | 0.0060 | -6 | c.772 others(23): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86656857 | GTATATA | G | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01099.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0034others(22): Show | 25 | 166 | 0.1506 | -6 | c.772 others(23): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86667493 | AAGAAAG | A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 166 | 0.0060 | -6 | c.772 others(25): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86679616 | CTGTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01109.hp1 others(24): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(24): Show | 27 | 166 | 0.1627 | -6 | c.773 others(25): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86698519 | GTGTTTT | G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 166 | 0.0060 | -6 | c.931 others(23): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86802528 | GAAAAAA | G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 166 | 0.0060 | -6 | c.124 others(27): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACT2_chr6_168301904_168324777 | 168321794 | TTTTTTC | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(52): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0028a0001c0001t0001g0047others(41): Show | 55 | 476 | 0.1156 | -6 | c.-21 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2018 | chr6 | TogoVar | ||||||
DACT2_chr6_168301904_168324777 | 168321861 | CTCTCCT | C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01167.hp1 others(6): Show |
a0002a0004a0005 | a0002c0002a0002c0003a0004c0006others(1): Show | a0002c0002t0004a0002c0003t0003a0004c0006t0003others(1): Show | a0002c0002t0004g0022a0002c0002t0004g0111a0002c0002t0004g0118others(6): Show | 9 | 476 | 0.0189 | -6 | c.-22 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2085 | chr6 | TogoVar | ||||||
DACT3_chr19_46642551_46666182 | 46651644 | TTGTGTG | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0050a0001c0001t0001g0099others(31): Show | 37 | 460 | 0.0804 | -6 | c.499 others(23): Show |
DACT3 | ENSG00000197380.11 | transcript | ENST00000391916.7 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
DACT3_chr19_46642551_46666182 | 46666110 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(11): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0096a0001c0001t0002g0017a0001c0001t0002g0018others(9): Show | 14 | 460 | 0.0304 | -6 | c.-50 others(17): Show |
DACT3 | ENSG00000197380.11 | transcript | ENST00000391916.7 | protein_coding | 4929 | chr19 | TogoVar | ||||||
DAD1_chr14_22559907_22594224 | 22583230 | ATTTAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01243.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0030others(18): Show | 29 | 386 | 0.0751 | -6 | c.211 others(23): Show |
DAD1 | ENSG00000129562.11 | transcript | ENST00000250498.9 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
DAG1_chr3_49465267_49540615 | 49478802 | CTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG02135.hp1 HG02145.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0006a0001c0001t0001g0045a0001c0001t0001g0083others(12): Show | 15 | 238 | 0.0630 | -6 | c.-11 others(25): Show |
DAG1 | ENSG00000173402.13 | transcript | ENST00000308775.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DAG1_chr3_49465267_49540615 | 49538981 | TTTATTA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00642.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0005t0002others(1): Show | a0001c0001t0003g0013a0001c0001t0003g0234a0001c0002t0002g0066others(21): Show | 25 | 238 | 0.1050 | -6 | c.*57 others(17): Show |
DAG1 | ENSG00000173402.13 | transcript | ENST00000308775.7 | protein_coding | 3367 | chr3 | TogoVar | ||||||
DAGLB_chr7_6404129_6452954 | 6437155 | AAATAAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(90): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0176a0001c0001t0003g0222a0001c0001t0003g0257others(90): Show | 93 | 380 | 0.2447 | -6 | c.248 others(21): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
DAGLB_chr7_6404129_6452954 | 6446477 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(62): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0008a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0001t0008g0196a0001c0002t0002g0111a0001c0002t0002g0112others(62): Show | 65 | 380 | 0.1711 | -6 | c.96- others(19): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
DAND5_chr19_12964576_12979760 | 12976358 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021a0001c0001t0008g0091a0001c0001t0008g0092others(1): Show | 6 | 398 | 0.0151 | -6 | c.*27 others(17): Show |
DAND5 | ENSG00000179284.6 | transcript | ENST00000317060.4 | protein_coding | 1599 | chr19 | TogoVar | ||||||
DAO_chr12_108875092_108906043 | 108875232 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp2 HG01168.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0015others(49): Show | 61 | 388 | 0.1572 | -6 | c.-50 others(17): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 4859 | chr12 | TogoVar | ||||||
DAO_chr12_108875092_108906043 | 108881474 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028a0001c0002t0001g0118a0001c0002t0001g0139 | 4 | 388 | 0.0103 | -6 | c.-10 others(23): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87571492 | CACCCCA | C | intron_variant | MODIFIER | HG02717.hp1 HG03098.hp1 HG03579.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0028a0001c0010t0001g0054a0002c0003t0001g0032others(1): Show | 4 | 236 | 0.0170 | -6 | c.63- others(23): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87675848 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01243.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0025others(4): Show | a0001c0001t0001a0001c0004t0014a0001c0025t0001others(4): Show | a0001c0001t0001g0070a0001c0004t0014g0178a0001c0025t0001g0085others(5): Show | 8 | 236 | 0.0339 | -6 | c.200 others(25): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87692952 | CTTTTTT | C | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG02970.hp2 others(2): Show |
a0001a0002 | a0001c0019a0001c0024a0002c0003 | a0001c0019t0001a0001c0024t0001a0002c0003t0002others(1): Show | a0001c0019t0001g0005a0001c0019t0001g0195a0001c0024t0001g0004others(2): Show | 5 | 236 | 0.0212 | -6 | c.241 others(25): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK2_chr15_63902036_64051485 | 63925678 | GCACACA | G | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0019 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0110others(4): Show | 7 | 214 | 0.0327 | -6 | c.812 others(21): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 8/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63932466 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(77): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(77): Show | 80 | 214 | 0.3738 | -6 | c.584 others(23): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 5/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63965461 | CTGGCTA | C | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0210a0001c0001t0008g0211a0001c0001t0008g0212others(2): Show | 5 | 214 | 0.0234 | -6 | c.453 others(23): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 4/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63989188 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(17): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(103): Show | 106 | 214 | 0.4953 | -6 | c.93- others(21): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64000186 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0112others(36): Show | 39 | 214 | 0.1822 | -6 | c.93- others(23): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64002916 | CTGTGTG | C | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01981.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0007a0001c0001t0027others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0062a0001c0001t0001g0063others(6): Show | 9 | 214 | 0.0421 | -6 | c.93- others(23): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64002974 | CTGTGTG | C | intron_variant | MODIFIER | HG02083.hp2 NA21309.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0164a0004c0007t0001g0129 | 2 | 214 | 0.0094 | -6 | c.93- others(23): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64016803 | AGGGAAG | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0004g0036a0001c0001t0004g0037a0001c0001t0004g0042others(26): Show | 29 | 214 | 0.1355 | -6 | c.92+ others(23): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64030979 | TACACAC | T | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0020a0001c0001t0009g0023a0001c0001t0017g0021others(1): Show | 4 | 214 | 0.0187 | -6 | c.92+ others(21): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64033253 | TGGGGAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(74): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(9): Show | a0001c0001t0001g0053a0001c0001t0001g0109a0001c0001t0001g0110others(74): Show | 77 | 214 | 0.3598 | -6 | c.92+ others(21): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64046321 | TCGCGGC | T | 5_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02818.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0022 | a0001c0001t0015g0002a0001c0001t0015g0003a0001c0001t0022g0001 | 3 | 214 | 0.0140 | -6 | c.-36 others(13): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 1/12 | 6061 | chr15 | TogoVar | |||||
DAPL1_chr2_158790317_158820990 | 158791981 | TTCTTTC | T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01069.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0002a0002c0002t0001 | a0001c0001t0002g0208a0001c0003t0002g0003a0001c0003t0002g0036others(8): Show | 15 | 360 | 0.0417 | -6 | c.-33 others(17): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 3335 | chr2 | TogoVar | ||||||
DAPL1_chr2_158790317_158820990 | 158816561 | CCACACA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01261.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0002g0021a0001c0001t0002g0038others(11): Show | 16 | 360 | 0.0444 | -6 | c.*74 others(15): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 572 | chr2 | TogoVar | ||||||
DAPP1_chr4_99811827_99875190 | 99812688 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01106.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0261a0001c0001t0002g0116a0001c0001t0002g0117others(24): Show | 31 | 366 | 0.0847 | -6 | c.-42 others(17): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 4138 | chr4 | TogoVar | ||||||
DAPP1_chr4_99811827_99875190 | 99857701 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019a0001c0001t0007g0127a0001c0001t0007g0130others(1): Show | 6 | 366 | 0.0164 | -6 | c.490 others(23): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DAP_chr5_10674230_10766234 | 10693117 | TGCACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(4): Show | 8 | 372 | 0.0215 | -6 | c.153 others(23): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10693124 | GCACACA | G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(135): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(125): Show | 138 | 372 | 0.3710 | -6 | c.153 others(23): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10722511 | CATACAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0145a0001c0001t0001g0153a0001c0001t0001g0285others(89): Show | 107 | 372 | 0.2876 | -6 | c.152 others(25): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10733155 | CGTGTGT | C | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01074.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0142a0001c0001t0001g0145a0001c0001t0001g0150others(12): Show | 15 | 372 | 0.0403 | -6 | c.152 others(25): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10739787 | TCACACA | T | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0005a0001c0001t0003g0313a0001c0001t0003g0314others(2): Show | 7 | 372 | 0.0188 | -6 | c.152 others(23): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10761385 | CCGGGGG | C | upstream_gene_variant | MODIFIER | NA18951.hp2 NA18952.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020a0001c0001t0006g0323 | 3 | 372 | 0.0081 | -6 | c.-32 others(15): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 152 | chr5 | TogoVar | ||||||
DARS1_chr2_135900881_135990626 | 135906321 | AATCTAG | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00735.hp1 others(70): Show |
a0001a0005a0006 | a0001c0001a0001c0005a0005c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(8): Show | a0001c0001t0002g0007a0001c0001t0002g0018a0001c0001t0002g0019others(65): Show | 73 | 378 | 0.1931 | -6 | c.*98 others(15): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 16/16 | 989 | chr2 | TogoVar | |||||
DARS2_chr1_173819673_173863546 | 173825449 | CATTATT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(64): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0005a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(58): Show | 67 | 344 | 0.1948 | -6 | c.127 others(21): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DARS2_chr1_173819673_173863546 | 173844778 | ATTTTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126a0001c0001t0002g0146a0001c0001t0002g0149others(7): Show | 10 | 344 | 0.0291 | -6 | c.112 others(23): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DAW1_chr2_227866631_227929344 | 227896593 | AGTGTGT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp1 others(57): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(53): Show | 60 | 340 | 0.1765 | -6 | c.441 others(23): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAW1_chr2_227866631_227929344 | 227921305 | CTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG01891.hp1 HG02132.hp1 others(12): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0316a0001c0003t0002g0153a0001c0003t0002g0154others(12): Show | 15 | 340 | 0.0441 | -6 | c.105 others(21): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |