view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSS3_chr12_81073079_81266210 | 81224573 | CATGT | C | intron_variant | MODIFIER | HG04204.hp2 NA18972.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0114 a0001c0001t0003g0216 a0001c0001t0004g0097 |
3 | 202 | 0.0149 | -4 | c.151 others(23): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81224574 | ATGTG | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00738.hp2 others(54): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(5): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0013g0176 others(54): Show |
57 | 274 | 0.2080 | -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 | 81225427 | CAGTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0074 a0001c0001t0001g0205 a0001c0001t0003g0200 others(4): Show |
7 | 288 | 0.0243 | -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 | 81226964 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0028others(8): Show | a0001c0001t0001g0115 a0001c0001t0020g0061 a0001c0001t0028g0038 others(31): Show |
34 | 116 | 0.2931 | -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 | 81255518 | GTTAC | G | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00738.hp1 others(83): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(10): Show | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0099 others(83): Show |
86 | 288 | 0.2986 | -4 | c.*60 others(13): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 16/16 | 600 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81261005 | TTTCA | T | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00738.hp1 others(83): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(10): Show | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0099 others(83): Show |
86 | 288 | 0.2986 | -4 | c.*60 others(15): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 16/16 | 6086 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229433832 | GCTGA | G | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG01243.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0002g0017 others(2): Show |
24 | 448 | 0.0536 | -4 | c.-13 others(19): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ACTA1_chr1_229426245_229439094 | 229435461 | CCTCT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01169.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0004 others(1): Show |
42 | 124 | 0.3387 | -4 | c.-14 others(15): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | |||||||
ACTA1_chr1_229426245_229439094 | 229437017 | TTCTC | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0017 |
38 | 448 | 0.0848 | -4 | c.-30 others(15): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 2924 | chr1 | TogoVar | |||||||
ACTA1_chr1_229426245_229439094 | 229438951 | AAATG | A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01516.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0021 others(2): Show |
17 | 333 | 0.0511 | -4 | c.-49 others(15): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 4858 | chr1 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88933683 | CCAAA | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0022 |
4 | 400 | 0.0100 | -4 | c.*15 others(15): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 1390 | chr10 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88934612 | TACAC | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02647.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 39 | 0.0769 | -4 | c.*60 others(13): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 461 | chr10 | TogoVar | |||||||
ACTBL2_chr5_57475018_57487811 | 57477624 | TAAAG | T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp2 others(24): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0000 a0003c0005t0001g0000 |
27 | 446 | 0.0605 | -4 | c.*39 others(15): Show |
ACTBL2 | ENSG00000169067.4 | transcript | ENST00000423391.3 | protein_coding | 2393 | chr5 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5525671 | CAATG | C | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01516.hp2 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0002g0002 others(1): Show |
6 | 366 | 0.0164 | -4 | c.*20 others(15): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 1476 | chr7 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34791307 | TCACA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01070.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0024 others(10): Show |
34 | 142 | 0.2394 | -4 | c.809 others(17): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 5/6 | chr15 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81505689 | GACAA | G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01192.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 5 | 368 | 0.0136 | -4 | c.*49 others(15): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 4281 | chr17 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73901532 | ATGTG | A | intron_variant | MODIFIER | HG02015.hp1 HG02055.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0004g0003 a0001c0001t0004g0390 a0001c0002t0002g0033 others(8): Show |
12 | 296 | 0.0405 | -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 | 73904739 | TTGTG | T | intron_variant | MODIFIER | HG00642.hp1 HG02129.hp2 NA19012.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 a0001c0002t0002g0137 a0001c0002t0002g0275 others(1): Show |
4 | 397 | 0.0101 | -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 | GTATA | G | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0045 a0001c0002t0002g0348 a0001c0002t0004g0038 others(7): Show |
10 | 268 | 0.0373 | -4 | c.255 others(21): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179561503 | GACAC | G | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(26): Show |
48 | 378 | 0.1270 | -4 | c.-15 others(15): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1422 | chr3 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179579791 | AAAAT | A | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0054 |
5 | 378 | 0.0132 | -4 | c.769 others(19): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG02965.hp1 NA18941.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0096 a0001c0001t0001g0109 others(4): Show |
7 | 44 | 0.1591 | -4 | c.369 others(21): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL7A_chr9_108857266_108868756 | 108858831 | CACAT | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 12 | 480 | 0.0250 | -4 | c.-34 others(15): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3434 | chr9 | TogoVar | |||||||
ACTL7A_chr9_108857266_108868756 | 108858835 | TACAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0011others(1): Show | a0001c0001t0001a0003c0003t0001a0005c0011t0001others(1): Show | a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0011t0001g0000 others(1): Show |
136 | 427 | 0.3185 | -4 | c.-34 others(15): Show |
ACTL7A | ENSG00000187003.7 | transcript | ENST00000333999.5 | protein_coding | 3430 | chr9 | TogoVar | |||||||
ACTL7B_chr9_108849588_108860986 | 108858831 | CACAT | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 12 | 468 | 0.0256 | -4 | c.-29 others(15): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2846 | chr9 | TogoVar | |||||||
ACTL7B_chr9_108849588_108860986 | 108858835 | TACAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0013 | a0001c0001t0001a0001c0004t0001a0005c0013t0001 | a0001c0001t0001g0000 a0001c0004t0001g0000 a0005c0013t0001g0000 |
131 | 416 | 0.3149 | -4 | c.-29 others(15): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2850 | chr9 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTTT | A | intron_variant | MODIFIER | HG02129.hp1 HG03130.hp1 HG03239.hp2 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0231 others(17): Show |
20 | 67 | 0.2985 | -4 | c.-25 others(23): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17798952 | CTCTG | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02976.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003 | a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0003g0355 |
3 | 364 | 0.0082 | -4 | c.-24 others(23): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17801497 | ATGAG | A | intron_variant | MODIFIER | HG00642.hp2 HG02280.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0003t0003a0001c0008t0001 | a0001c0003t0001g0189 a0001c0003t0001g0344 a0001c0003t0001g0345 others(5): Show |
8 | 364 | 0.0220 | -4 | c.-24 others(23): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8693158 | ATTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(133): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0001a0002c0002t0003a0002c0004t0001others(5): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0004t0001g0000 others(5): Show |
136 | 348 | 0.3908 | -4 | c.*42 others(15): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 4241 | chr19 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8694853 | AAGAG | A | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01952.hp2 HG02735.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0003 | a0001c0001t0001a0001c0012t0001a0003c0003t0001 | a0001c0001t0001g0000 a0001c0012t0001g0000 a0003c0003t0001g0000 |
9 | 60 | 0.1500 | -4 | c.*25 others(15): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8695238 | AAAAC | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(163): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(7): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0010t0001g0000 others(7): Show |
166 | 239 | 0.6946 | -4 | c.*22 others(15): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2161 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40747867 | AAAAC | A | intron_variant | MODIFIER | HG00597.hp1 HG02015.hp1 NA18612.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0022 a0001c0001t0001g0096 a0001c0001t0001g0100 others(3): Show |
11 | 422 | 0.0261 | -4 | c.323 others(21): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00673.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0001t0028a0001c0001t0037others(7): Show | a0001c0001t0005g0116 a0001c0001t0028g0108 a0001c0001t0028g0117 others(15): Show |
57 | 290 | 0.1966 | -4 | c.-54 others(15): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68869420 | CTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(69): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0004t0001others(5): Show | a0001c0002t0003g0003 a0001c0002t0003g0130 a0001c0002t0003g0131 others(68): Show |
72 | 78 | 0.9231 | -4 | c.*54 others(15): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 4707 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68935387 | ATTTT | A | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0197 others(8): Show |
11 | 49 | 0.2245 | -4 | c.106 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68942613 | TAGAC | T | intron_variant | MODIFIER | HG01167.hp1 HG01934.hp2 HG01952.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0004 | a0001c0001t0002g0101 a0001c0002t0003g0145 a0001c0002t0004g0098 others(3): Show |
6 | 282 | 0.0213 | -4 | c.106 others(23): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68948220 | CACTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(142): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 others(140): Show |
145 | 282 | 0.5142 | -4 | c.106 others(23): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950294 | CAAAA | C | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0241 others(6): Show |
9 | 27 | 0.3333 | -4 | c.106 others(23): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236689300 | GATAT | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01071.hp1 others(30): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0217 others(30): Show |
33 | 181 | 0.1823 | -4 | c.126 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236693177 | GCACA | G | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01106.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0115 a0001c0001t0004g0075 a0001c0001t0004g0076 others(31): Show |
35 | 54 | 0.6481 | -4 | c.126 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709220 | GTATA | G | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0203 a0001c0001t0003g0022 a0001c0001t0003g0027 others(7): Show |
10 | 201 | 0.0498 | -4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709253 | TATAC | T | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0016 | a0001c0001t0001g0104 a0001c0015t0016g0114 a0001c0015t0016g0116 |
3 | 259 | 0.0116 | -4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236716096 | CTTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(59): Show |
62 | 339 | 0.1829 | -4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236747517 | ACTGT | A | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp2 HG02083.hp2 others(12): Show |
a0002 | a0002c0005a0002c0008a0002c0020 | a0002c0005t0004a0002c0008t0004a0002c0020t0002 | a0002c0005t0004g0009 a0002c0005t0004g0010 a0002c0005t0004g0036 others(12): Show |
15 | 342 | 0.0439 | -4 | c.140 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236751438 | ATTGT | A | intron_variant | MODIFIER | HG01258.hp1 HG01516.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0020 | a0001c0001t0012g0020 a0001c0001t0012g0110 a0001c0003t0020g0123 |
3 | 342 | 0.0088 | -4 | c.165 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236768415 | GTTTT | G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02015.hp1 others(34): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0011others(11): Show | a0001c0001t0005g0056 a0001c0001t0005g0081 a0001c0001t0009g0073 others(34): Show |
37 | 229 | 0.1616 | -4 | c.*57 others(15): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3785 | chr1 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66552880 | TCACA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(96): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0005c0006others(6): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(47): Show |
99 | 325 | 0.3046 | -4 | c.383 others(21): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38649332 | TAAAG | T | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0037a0001c0007t0001a0005c0018t0001 | a0001c0002t0037g0203 a0001c0007t0001g0200 a0001c0007t0001g0202 others(2): Show |
5 | 312 | 0.0160 | -4 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38657634 | TTTTC | T | intron_variant | MODIFIER | HG01952.hp1 NA18986.hp1 NA18986.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0218 a0001c0002t0006g0024 a0001c0002t0006g0219 others(1): Show |
4 | 312 | 0.0128 | -4 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |