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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN2_chr1_236681499_236769631 | 236701368 | GA | G | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0009g0118 |
3 | 344 | 0.0087 | -1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236703433 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(43): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0251 others(43): Show |
46 | 344 | 0.1337 | -1 | c.127 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236703662 | CT | C | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02027.hp1 others(23): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(13): Show | a0001c0001t0003g0238 a0001c0001t0003g0272 a0001c0001t0003g0340 others(23): Show |
26 | 344 | 0.0756 | -1 | c.127 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236706111 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(96): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0114 others(96): Show |
99 | 344 | 0.2878 | -1 | c.127 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236707709 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(92): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0041 a0001c0001t0001g0184 a0001c0001t0001g0188 others(92): Show |
95 | 344 | 0.2762 | -1 | c.127 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236712920 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(169): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0103 others(169): Show |
172 | 344 | 0.5000 | -1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713226 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01123.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0003g0104 others(9): Show |
12 | 344 | 0.0349 | -1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715155 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(107): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0041 a0001c0001t0001g0103 a0001c0001t0001g0184 others(107): Show |
110 | 344 | 0.3198 | -1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236716099 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0031 others(183): Show |
186 | 344 | 0.5407 | -1 | c.127 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236717078 | GC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(311): Show |
314 | 344 | 0.9128 | -1 | c.127 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236717965 | CA | C | frameshift_variant | HIGH | NA19063.hp2 | a0009 | a0009c0035 | a0009c0035t0003 | a0009c0035t0003g0169 | 1 | 344 | 0.0029 | -1 | c.235 others(4): Show |
p.Ile others(4): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 410/4872 | 235/2685 | 79/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236717968 | CT | C | frameshift_variant | HIGH | NA19063.hp2 | a0009 | a0009c0035 | a0009c0035t0003 | a0009c0035t0003g0169 | 1 | 344 | 0.0029 | -1 | c.238 others(4): Show |
p.Ser others(4): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 413/4872 | 238/2685 | 80/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236721021 | TG | T | intron_variant | MODIFIER | HG01123.hp1 HG01258.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(1): Show | a0001c0001t0001g0301 a0001c0001t0012g0019 a0001c0001t0012g0109 others(3): Show |
6 | 344 | 0.0174 | -1 | c.448 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236722634 | CA | C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01261.hp1 others(27): Show |
a0001a0004a0005 | a0001c0003a0001c0006a0001c0010others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0002g0051 others(27): Show |
30 | 344 | 0.0872 | -1 | c.448 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236724838 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(273): Show |
276 | 344 | 0.8023 | -1 | c.449 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236727185 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(278): Show |
281 | 344 | 0.8169 | -1 | c.537 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236728143 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(120): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(120): Show |
123 | 344 | 0.3576 | -1 | c.615 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236728633 | GC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0018 others(172): Show |
175 | 344 | 0.5087 | -1 | c.615 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 6/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236730271 | CT | C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01123.hp1 others(24): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(11): Show | a0001c0001t0001g0110 a0001c0001t0004g0102 a0001c0001t0012g0019 others(24): Show |
27 | 344 | 0.0785 | -1 | c.616 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236735383 | AG | A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01106.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0139 a0001c0001t0001g0141 others(26): Show |
29 | 344 | 0.0843 | -1 | c.698 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236736599 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(168): Show |
171 | 344 | 0.4971 | -1 | c.784 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737527 | CT | C | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG02015.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0041 a0001c0001t0001g0139 a0001c0001t0001g0141 others(17): Show |
20 | 344 | 0.0581 | -1 | c.876 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236739327 | TC | T | frameshift_variant | HIGH | NA19082.hp2 | a0011 | a0011c0023 | a0011c0023t0004 | a0011c0023t0004g0257 | 1 | 344 | 0.0029 | -1 | c.906 others(4): Show |
p.Trp others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/21 | 1081/4872 | 906/2685 | 302/894 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236742544 | AC | A | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01168.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0103 a0001c0001t0002g0156 others(22): Show |
25 | 344 | 0.0727 | -1 | c.110 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236743569 | CT | C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01243.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(7): Show | a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0004g0059 others(15): Show |
18 | 344 | 0.0523 | -1 | c.125 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236746165 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(179): Show |
182 | 344 | 0.5291 | -1 | c.140 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236746706 | CA | C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01258.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0003g0104 others(16): Show |
19 | 344 | 0.0552 | -1 | c.140 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236750920 | CT | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0003g0238 a0001c0001t0004g0069 a0001c0001t0004g0075 others(12): Show |
15 | 344 | 0.0436 | -1 | c.165 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 14/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236751089 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(66): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0144 others(66): Show |
69 | 344 | 0.2006 | -1 | c.165 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236754680 | AC | A | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG02717.hp2 others(6): Show |
a0001a0005 | a0001c0003a0001c0004a0005c0017 | a0001c0003t0002a0001c0004t0005a0005c0017t0024 | a0001c0003t0002g0170 a0001c0004t0005g0056 a0001c0004t0005g0060 others(6): Show |
9 | 344 | 0.0262 | -1 | c.197 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236758289 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(130): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0184 a0001c0001t0001g0286 a0001c0001t0002g0156 others(130): Show |
133 | 344 | 0.3866 | -1 | c.230 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236758452 | AT | A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG01981.hp2 others(26): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0004g0102 a0001c0001t0004g0119 a0001c0001t0005g0055 others(26): Show |
29 | 344 | 0.0843 | -1 | c.230 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236764703 | AG | A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03139.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0004a0001c0003t0022a0001c0007t0004 | a0001c0001t0004g0102 a0001c0001t0004g0119 a0001c0003t0022g0093 others(1): Show |
4 | 344 | 0.0116 | -1 | c.*20 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 73 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236765120 | CA | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG02015.hp1 HG02080.hp2 others(17): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0002others(7): Show | a0001c0001t0001g0328 a0001c0001t0017g0097 a0001c0002t0002g0223 others(17): Show |
20 | 344 | 0.0581 | -1 | c.*25 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 490 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236766633 | TG | T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0004a0001c0003t0022a0001c0007t0004 | a0001c0001t0004g0102 a0001c0001t0004g0119 a0001c0003t0022g0093 others(2): Show |
5 | 344 | 0.0145 | -1 | c.*40 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2003 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236768415 | GT | G | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01496.hp1 HG02630.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0025 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0139 a0001c0001t0001g0158 a0001c0001t0001g0262 others(10): Show |
13 | 344 | 0.0378 | -1 | c.*57 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3785 | chr1 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66545206 | AT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(64): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(31): Show |
67 | 400 | 0.1675 | -1 | c.-17 others(6): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1696 | chr11 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66551281 | AC | A | frameshift_variant | HIGH | NA18967.hp2 | a0002 | a0002c0034 | a0002c0034t0001 | a0002c0034t0001g0173 | 1 | 400 | 0.0025 | -1 | c.193 others(4): Show |
p.Gln others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 2/21 | 228/2882 | 193/2706 | 65/901 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
ACTN3_chr11_66541903_66568334 | 66552369 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0002c0034others(17): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(112): Show |
218 | 400 | 0.5450 | -1 | c.382 others(8): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66553853 | CA | C | intron_variant | MODIFIER | HG02523.hp1 HG02897.hp2 HG03710.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0159 others(3): Show |
6 | 400 | 0.0150 | -1 | c.383 others(8): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66554288 | AC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0034others(17): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(100): Show |
209 | 400 | 0.5225 | -1 | c.469 others(8): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66555290 | AC | A | frameshift_variant | HIGH | NA19001.hp1 | a0023 | a0023c0019 | a0023c0019t0002 | a0023c0019t0002g0179 | 1 | 400 | 0.0025 | -1 | c.645 others(4): Show |
p.Ile others(5): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 7/21 | 680/2882 | 645/2706 | 215/901 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
ACTN4_chr19_38642649_38736589 | 38649272 | TG | T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01099.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0043a0001c0002t0001a0001c0004t0005others(6): Show | a0001c0001t0043g0295 a0001c0002t0001g0075 a0001c0002t0001g0226 others(24): Show |
27 | 314 | 0.0860 | -1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38651722 | GT | G | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0006 | a0001c0002a0001c0007a0006c0023 | a0001c0002t0040a0001c0007t0001a0006c0023t0001 | a0001c0002t0040g0203 a0001c0007t0001g0200 a0001c0007t0001g0202 others(2): Show |
5 | 314 | 0.0159 | -1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38653413 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(17): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0043others(8): Show | a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 others(17): Show |
20 | 314 | 0.0637 | -1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38654096 | TC | T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01099.hp1 others(22): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0004t0005a0001c0004t0013others(5): Show | a0001c0002t0001g0226 a0001c0004t0005g0222 a0001c0004t0005g0224 others(22): Show |
25 | 314 | 0.0796 | -1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38654561 | CA | C | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01099.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0043others(8): Show | a0001c0001t0001g0170 a0001c0001t0022g0198 a0001c0001t0022g0199 others(25): Show |
28 | 314 | 0.0892 | -1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38657146 | AT | A | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01099.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0029a0001c0002t0001a0001c0004t0005others(6): Show | a0001c0001t0029g0084 a0001c0002t0001g0226 a0001c0004t0005g0222 others(22): Show |
25 | 314 | 0.0796 | -1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38666223 | TC | T | intron_variant | MODIFIER | HG02015.hp1 HG02040.hp2 HG02071.hp1 others(19): Show |
a0001a0008a0010others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0004a0001c0001t0019a0001c0001t0044others(6): Show | a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0256 others(19): Show |
22 | 314 | 0.0701 | -1 | c.162 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38669313 | CT | C | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0006 | a0001c0007a0006c0023 | a0001c0007t0001a0006c0023t0001 | a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 others(1): Show |
4 | 314 | 0.0127 | -1 | c.162 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |