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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSS1_chr20_25001237_25063139 | 25037005 | A | AAAGG | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0030others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(106): Show | 122 | 244 | 0.5000 | 4 | c.432 others(21): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25053060 | C | CTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02109.hp2 others(19): Show |
a0003a0004a0005others(2): Show | a0003c0006a0004c0008a0004c0018others(5): Show | a0003c0006t0001a0004c0008t0001a0004c0018t0002others(6): Show | a0003c0006t0001g0020a0003c0006t0001g0021a0003c0006t0001g0213others(17): Show | 22 | 244 | 0.0902 | 4 | c.334 others(21): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 1/13 | chr20 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25059490 | C | CTTTG | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02647.hp1 others(10): Show |
a0004a0005 | a0004c0008a0004c0018a0004c0019others(3): Show | a0004c0008t0001a0004c0018t0002a0004c0019t0001others(3): Show | a0004c0008t0001g0024a0004c0008t0001g0029a0004c0008t0001g0030others(10): Show | 13 | 244 | 0.0533 | 4 | c.-13 others(15): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 1352 | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34877909 | C | CAGAT | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01934.hp1 others(8): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0217a0001c0001t0001g0218a0001c0002t0001g0019others(8): Show | 11 | 312 | 0.0353 | 4 | c.178 others(21): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34879496 | G | GACAC | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01109.hp2 others(21): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0001a0001c0003t0001a0002c0004t0001 | a0001c0002t0001g0015a0001c0002t0001g0039a0001c0002t0001g0085others(20): Show | 24 | 312 | 0.0769 | 4 | c.178 others(21): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCC | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01928.hp2 others(12): Show |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0002t0001g0019a0001c0002t0001g0026a0001c0002t0001g0033others(12): Show | 15 | 312 | 0.0481 | 4 | c.375 others(23): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81073304 | G | GGTTC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(83): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0035a0001c0001t0001g0045a0001c0001t0001g0046others(83): Show | 86 | 290 | 0.2966 | 4 | c.-48 others(15): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4774 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81083358 | C | CTTTT | intron_variant | MODIFIER | HG01928.hp1 HG02559.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0005t0007a0002c0004t0003others(1): Show | a0001c0001t0001g0286a0001c0005t0007g0150a0001c0005t0007g0151others(3): Show | 6 | 290 | 0.0207 | 4 | c.311 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81094184 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00738.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(6): Show | a0001c0001t0001g0235a0001c0001t0001g0239a0001c0001t0001g0241others(31): Show | 34 | 290 | 0.1172 | 4 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81098129 | T | TGAGA | intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG02040.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0023 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(4): Show | 7 | 290 | 0.0241 | 4 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81098151 | A | AGAGT | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG00741.hp2 others(46): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(46): Show | 49 | 290 | 0.1690 | 4 | c.312 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81102045 | G | GCACA | intron_variant | MODIFIER | HG02698.hp2 NA19007.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026a0001c0001t0001g0257a0001c0001t0003g0238 | 3 | 290 | 0.0103 | 4 | c.312 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107503 | A | AATAT | intron_variant | MODIFIER | HG00597.hp1 HG01261.hp1 HG02698.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0027others(6): Show | 9 | 290 | 0.0310 | 4 | c.312 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107509 | T | TACAC | intron_variant | MODIFIER | HG02055.hp2 NA18953.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0205a0001c0001t0003g0210a0001c0001t0003g0211 | 3 | 290 | 0.0103 | 4 | c.312 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CATAT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01081.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0054a0001c0001t0001g0111others(8): Show | 11 | 290 | 0.0379 | 4 | c.312 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81137321 | T | TCACA | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02257.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0001g0054a0001c0001t0003g0201a0001c0001t0003g0221others(11): Show | 14 | 290 | 0.0483 | 4 | c.646 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81148897 | T | TAAAA | intron_variant | MODIFIER | HG02145.hp2 HG02965.hp2 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0005t0007a0002c0004t0004 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(4): Show | 7 | 290 | 0.0241 | 4 | c.922 others(21): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81156185 | A | AACAC | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01169.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0027others(3): Show | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0094others(31): Show | 34 | 290 | 0.1172 | 4 | c.109 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81156209 | C | CCACA | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01069.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0029others(4): Show | a0001c0001t0001g0097a0001c0001t0001g0239a0001c0001t0003g0236others(23): Show | 26 | 290 | 0.0897 | 4 | c.109 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81157931 | T | TACAC | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01496.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0042others(20): Show | 23 | 290 | 0.0793 | 4 | c.109 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81179765 | C | CGAGA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00597.hp2 others(108): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0119a0001c0001t0001g0205a0001c0001t0001g0239others(108): Show | 111 | 290 | 0.3828 | 4 | c.125 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81181747 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01891.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0003g0259a0001c0001t0003g0288a0001c0001t0004g0030others(19): Show | 22 | 290 | 0.0759 | 4 | c.125 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81202279 | A | AAAAT | intron_variant | MODIFIER | HG02922.hp1 NA18970.hp1 NA19054.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0015 | a0001c0002t0002a0002c0015t0003 | a0001c0002t0002g0163a0001c0002t0002g0168a0001c0002t0002g0169others(2): Show | 5 | 290 | 0.0172 | 4 | c.135 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81210533 | G | GCTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00597.hp2 others(83): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(18): Show | a0001c0001t0001g0119a0001c0001t0001g0205a0001c0001t0003g0094others(83): Show | 86 | 290 | 0.2966 | 4 | c.135 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213932 | C | CCTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(76): Show | 79 | 290 | 0.2724 | 4 | c.135 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTT | intron_variant | MODIFIER | HG01928.hp2 HG02148.hp2 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0046a0001c0001t0001g0099others(8): Show | 11 | 290 | 0.0379 | 4 | c.135 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81226964 | T | TACAC | intron_variant | MODIFIER | HG00597.hp1 HG01257.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0097others(1): Show | 4 | 290 | 0.0138 | 4 | c.151 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81227398 | T | TACAC | intron_variant | MODIFIER | HG01070.hp1 HG02155.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0002 | a0001c0001t0020g0061a0001c0002t0002g0001a0001c0002t0002g0100others(1): Show | 4 | 290 | 0.0138 | 4 | c.151 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81249685 | T | TATTC | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0008a0001c0001t0023a0002c0004t0008 | a0001c0001t0008g0074a0001c0001t0008g0075a0001c0001t0008g0076others(4): Show | 7 | 290 | 0.0241 | 4 | c.172 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229435461 | C | CCTCT | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01192.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0001a0001c0001t0002g0004 | 12 | 450 | 0.0267 | 4 | c.-14 others(15): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229438951 | A | AAATG | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0002g0001a0001c0003t0001g0011others(1): Show | 18 | 450 | 0.0400 | 4 | c.-49 others(15): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 4858 | chr1 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934612 | T | TAAAC | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0064 | 6 | 402 | 0.0149 | 4 | c.*61 others(13): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934612 | T | TACAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(30): Show | 128 | 402 | 0.3184 | 4 | c.*60 others(13): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | ||||||
ACTA2_chr10_88930074_88957773 | 88934636 | C | CACAT | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02486.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0001g0056 | 3 | 402 | 0.0075 | 4 | c.*58 others(13): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 437 | chr10 | TogoVar | ||||||
ACTB_chr7_5522148_5535601 | 5533011 | A | AAGAG | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0005 | 3 | 370 | 0.0081 | 4 | c.-24 others(15): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 2411 | chr7 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34791307 | T | TCACA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0023others(14): Show | 71 | 496 | 0.1432 | 4 | c.809 others(17): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 5/6 | chr15 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34800230 | A | ATTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(27): Show | 66 | 496 | 0.1331 | 4 | c.-47 others(15): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 4682 | chr15 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73901532 | A | ATGTG | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01070.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0004g0110a0001c0002t0002g0058a0001c0002t0002g0111others(26): Show | 29 | 416 | 0.0697 | 4 | c.126 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904775 | G | GTATA | intron_variant | MODIFIER | HG06807.hp1 NA18949.hp2 NA18963.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0331a0001c0002t0002g0169a0001c0002t0002g0288others(3): Show | 6 | 416 | 0.0144 | 4 | c.255 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTATA | intron_variant | MODIFIER | HG00673.hp1 HG01934.hp2 HG02273.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0077a0001c0002t0002g0119a0001c0002t0002g0162others(5): Show | 8 | 416 | 0.0192 | 4 | c.255 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTGTA | intron_variant | MODIFIER | HG01169.hp2 NA18978.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0058a0001c0002t0002g0116a0001c0002t0004g0347 | 3 | 416 | 0.0072 | 4 | c.255 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73910224 | G | GTATA | intron_variant | MODIFIER | HG01167.hp1 HG01346.hp2 HG01884.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0126a0001c0001t0001g0356a0001c0001t0001g0357others(9): Show | 13 | 416 | 0.0313 | 4 | c.451 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73917188 | A | AAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(179): Show | 193 | 416 | 0.4639 | 4 | c.987 others(19): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73924580 | A | ATTTT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0259a0001c0001t0003g0393a0001c0001t0005g0028others(10): Show | 13 | 416 | 0.0313 | 4 | c.*50 others(15): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4716 | chr2 | TogoVar | ||||||
ACTL10_chr20_33661943_33673525 | 33665473 | A | AAAAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(266): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0004g0000others(11): Show | 269 | 368 | 0.7310 | 4 | c.-20 others(15): Show |
ACTL10 | ENSG00000288649.2 | transcript | ENST00000677665.1 | protein_coding | 1469 | chr20 | TogoVar | ||||||
ACTL10_chr20_33661943_33673525 | 33665480 | A | ACAAC | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02486.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 5 | 368 | 0.0136 | 4 | c.-20 others(15): Show |
ACTL10 | ENSG00000288649.2 | transcript | ENST00000677665.1 | protein_coding | 1462 | chr20 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TACAC | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00735.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0012others(18): Show | 44 | 380 | 0.1158 | 4 | c.769 others(21): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TATAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00639.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0053a0001c0001t0001g0102others(11): Show | 21 | 380 | 0.0553 | 4 | c.769 others(21): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTL6B_chr7_100638097_100661448 | 100652999 | C | CAAAA | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01496.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0168others(3): Show | 8 | 360 | 0.0222 | 4 | c.369 others(21): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL7A_chr9_108857266_108868756 | 108858835 | T | TACAC | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02280.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 482 | 0.0062 | 4 | c.-34 others(15): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3430 | chr9 | TogoVar |