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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN4_chr19_38642649_38736589 | 38735938 | G | GGGGCA | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01123.hp2 others(12): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0005a0001c0004t0013a0001c0004t0048others(2): Show | a0001c0004t0005g0222a0001c0004t0005g0224a0001c0004t0005g0225others(12): Show | 15 | 314 | 0.0478 | 5 | c.*65 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4350 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735962 | G | GCGGGC | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG02602.hp2 others(4): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0003a0001c0003t0009a0001c0003t0051others(1): Show | a0001c0003t0003g0178a0001c0003t0003g0184a0001c0003t0009g0182others(4): Show | 7 | 314 | 0.0223 | 5 | c.*65 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4374 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735962 | G | GGGGGC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(64): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(10): Show | a0001c0001t0001g0086a0001c0001t0001g0205a0001c0001t0002g0109others(64): Show | 67 | 314 | 0.2134 | 5 | c.*65 others(16): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4374 | chr19 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152765132 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238a0001c0001t0001g0267a0001c0001t0001g0292 | 3 | 310 | 0.0097 | 5 | c.44+ others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152785379 | G | GAGAGA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00735.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0207a0001c0001t0001g0215others(40): Show | 45 | 310 | 0.1452 | 5 | c.100 others(22): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0288a0001c0001t0001g0289a0001c0001t0001g0292others(5): Show | 8 | 310 | 0.0258 | 5 | c.337 others(22): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152825304 | T | TTTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0201a0001c0001t0001g0202others(71): Show | 75 | 310 | 0.2419 | 5 | c.951 others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3C_chr7_150242212_150328545 | 150246781 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG01952.hp1 HG02055.hp2 HG02109.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0044a0001c0001t0001g0209others(20): Show | 24 | 294 | 0.0816 | 5 | c.*82 others(14): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 430 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150264569 | G | GTATAT | intron_variant | MODIFIER | HG03486.hp1 NA18977.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0044a0001c0001t0001g0204a0002c0002t0001g0141 | 3 | 294 | 0.0102 | 5 | c.565 others(24): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150273283 | C | CTGACT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02257.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0014a0002c0002t0001g0114a0002c0002t0001g0115others(6): Show | 9 | 294 | 0.0306 | 5 | c.564 others(24): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150327819 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02055.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0259a0002c0002t0001g0260 | 6 | 294 | 0.0204 | 5 | c.-44 others(16): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 4275 | chr7 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113933677 | A | ATTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01256.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0001c0001t0007a0001c0001t0013others(2): Show | a0001c0001t0006g0006a0001c0001t0006g0226a0001c0001t0006g0228others(6): Show | 11 | 390 | 0.0282 | 5 | c.433 others(20): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR6_chr12_100195815_100229424 | 100228471 | T | TGGGCA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0026others(3): Show | 13 | 242 | 0.0537 | 5 | c.*45 others(16): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 4048 | chr12 | TogoVar | ||||||
ACTRT1_chrX_128045962_128057403 | 128048392 | C | CAGATG | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 5 | c.*26 others(16): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2569 | chrX | TogoVar | ||||||
ACTRT1_chrX_128045962_128057403 | 128056896 | T | TTTGTC | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 5 | c.-46 others(16): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 4494 | chrX | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157562459 | A | AAAAAT | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02080.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0024others(9): Show | a0001c0001t0001g0147a0001c0001t0001g0193a0001c0002t0001g0027others(14): Show | 17 | 216 | 0.0787 | 5 | c.305 others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157576203 | C | CTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0023a0001c0002t0037others(1): Show | a0001c0002t0001g0063a0001c0002t0001g0074a0001c0002t0001g0088others(3): Show | 6 | 216 | 0.0278 | 5 | c.304 others(24): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157755523 | A | AATACC | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0002g0051a0001c0001t0002g0060a0001c0001t0002g0062others(10): Show | 13 | 174 | 0.0747 | 5 | c.126 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826697 | G | GAAGGA | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0101a0001c0002t0001g0134a0001c0002t0004g0173 | 3 | 174 | 0.0172 | 5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826864 | G | GGGAAA | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(13): Show | a0001c0001t0001g0020a0001c0001t0001g0082a0001c0001t0001g0131others(43): Show | 46 | 174 | 0.2644 | 5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157863336 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01255.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0047a0001c0001t0001g0082others(6): Show | 9 | 174 | 0.0517 | 5 | c.-18 others(26): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147845348 | G | GCCCCC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(49): Show |
a0001a0002a0003 | a0001c0002a0002c0006a0003c0007 | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(2): Show | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0046others(48): Show | 52 | 338 | 0.1539 | 5 | c.55+ others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVRL1_chr12_51902504_51928361 | 51914716 | T | TTTTAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(184): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0033others(81): Show | 187 | 438 | 0.4269 | 5 | c.772 others(20): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACYP1_chr14_75048243_75069024 | 75062101 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0023a0001c0001t0001g0079others(2): Show | 10 | 322 | 0.0311 | 5 | c.84+ others(20): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01516.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0016others(1): Show | a0001c0002t0002g0052a0001c0002t0002g0059a0001c0002t0002g0060others(10): Show | 13 | 272 | 0.0478 | 5 | c.-37 others(16): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53989965 | C | CCTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0001g0116others(39): Show | 42 | 272 | 0.1544 | 5 | c.62+ others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54017253 | G | GTTTCT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(8): Show | a0001c0001t0001g0196a0001c0001t0001g0221a0001c0001t0004g0170others(75): Show | 78 | 272 | 0.2868 | 5 | c.63- others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54027837 | C | CTTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009 | a0001c0002t0003g0069a0001c0002t0003g0072a0001c0002t0003g0077others(12): Show | 15 | 272 | 0.0552 | 5 | c.63- others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54195794 | G | GTTTTT | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0267a0001c0002t0003g0070a0001c0002t0003g0073others(2): Show | 5 | 272 | 0.0184 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54197942 | A | ATATTG | intron_variant | MODIFIER | HG01358.hp1 HG02004.hp1 HG02735.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0119a0001c0001t0001g0174a0001c0001t0004g0121others(3): Show | 6 | 272 | 0.0221 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54202706 | C | CTTTTT | intron_variant | MODIFIER | HG01952.hp2 HG02572.hp2 HG02886.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(3): Show | a0001c0001t0001g0146a0001c0001t0001g0183a0001c0001t0001g0187others(11): Show | 14 | 272 | 0.0515 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54210414 | A | AAAACT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0001g0129a0001c0001t0001g0131a0001c0001t0001g0132others(59): Show | 62 | 272 | 0.2279 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54219905 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01515.hp1 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0175a0001c0001t0001g0213a0001c0001t0004g0158others(5): Show | 8 | 272 | 0.0294 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54221520 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG02630.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0135a0001c0001t0001g0267a0001c0001t0004g0226others(4): Show | 7 | 272 | 0.0257 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54256816 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(8): Show | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0131others(63): Show | 66 | 272 | 0.2427 | 5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADA2_chr22_17173790_17224435 | 17202773 | C | CTTTCT | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(22): Show | a0001c0001t0001g0016a0001c0001t0001g0055a0001c0001t0001g0059others(53): Show | 56 | 408 | 0.1373 | 5 | c.753 others(20): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01081.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0001t0001g0149others(23): Show | 26 | 342 | 0.0760 | 5 | c.586 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58655678 | A | ATATAC | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0108a0001c0001t0001g0135a0001c0001t0001g0146others(5): Show | 8 | 342 | 0.0234 | 5 | c.585 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58655704 | A | ATATAC | intron_variant | MODIFIER | HG03195.hp1 HG03225.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0031 | a0001c0001t0028g0185a0001c0001t0028g0186a0001c0001t0031g0279others(1): Show | 4 | 342 | 0.0117 | 5 | c.585 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58655710 | A | ATATAT | intron_variant | MODIFIER | HG00639.hp1 HG02027.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(1): Show | a0001c0001t0001g0178a0001c0001t0002g0138a0001c0001t0002g0143others(3): Show | 6 | 342 | 0.0175 | 5 | c.585 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58683859 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01243.hp2 HG01952.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0003g0189a0001c0001t0003g0238a0001c0001t0004g0235others(21): Show | 24 | 342 | 0.0702 | 5 | c.207 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58726567 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02683.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0014others(7): Show | a0001c0001t0007g0293a0001c0001t0007g0308a0001c0001t0007g0322others(12): Show | 15 | 342 | 0.0439 | 5 | c.56- others(20): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58727784 | T | TCAAAA | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0096a0001c0001t0018g0097a0001c0001t0018g0098 | 3 | 342 | 0.0088 | 5 | c.56- others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44765610 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp1 HG02109.hp2 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(4): Show | a0001c0001t0001g0148a0001c0001t0005g0030a0001c0001t0005g0130others(17): Show | 25 | 336 | 0.0744 | 5 | c.238 others(22): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ADAM12_chr10_126007391_126393477 | 126020992 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01928.hp2 HG02027.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0005others(3): Show | a0001c0002t0018a0001c0003t0012a0002c0005t0003others(3): Show | a0001c0002t0018g0135a0001c0003t0012g0134a0002c0005t0003g0122others(4): Show | 7 | 252 | 0.0278 | 5 | c.253 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 21/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126037724 | G | GTTCTC | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02486.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0037others(4): Show | a0001c0002t0011a0001c0002t0027a0001c0004t0011others(5): Show | a0001c0002t0011g0178a0001c0002t0011g0191a0001c0002t0027g0001others(6): Show | 9 | 252 | 0.0357 | 5 | c.234 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 20/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126082363 | G | GTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG00738.hp1 others(41): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(28): Show | a0001c0002t0001g0042a0001c0002t0001g0097a0001c0002t0001g0149others(41): Show | 44 | 252 | 0.1746 | 5 | c.114 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113658 | C | CAAAAA | intron_variant | MODIFIER | NA18989.hp1 NA18994.hp2 NA19063.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0009a0001c0003t0010a0002c0001t0037others(2): Show | a0001c0003t0009g0032a0001c0003t0010g0140a0002c0001t0037g0081others(2): Show | 5 | 252 | 0.0198 | 5 | c.604 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126138817 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(18): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(33): Show | a0001c0002t0001g0044a0001c0002t0001g0097a0001c0002t0001g0209others(47): Show | 50 | 252 | 0.1984 | 5 | c.340 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126138818 | T | TCTTTC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0039others(34): Show | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0001g0143others(54): Show | 57 | 252 | 0.2262 | 5 | c.340 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar |