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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN3_chr11_66541903_66568334 | 66553853 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(83): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0030others(5): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0024 others(43): Show |
86 | 391 | 0.2199 | 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 | 66554289 | C | CA | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0092 a0001c0001t0001g0094 a0002c0002t0001g0001 others(14): Show |
24 | 391 | 0.0614 | 1 | c.469 others(16): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 4/20 | chr11 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66554456 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(171): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0008others(12): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(89): Show |
174 | 392 | 0.4439 | 1 | c.470 others(7): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66566727 | C | CT | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0012 | a0001c0001t0001a0002c0002t0001a0007c0012t0001 | a0001c0001t0001g0013 a0001c0001t0001g0102 a0001c0001t0001g0103 others(4): Show |
7 | 395 | 0.0177 | 1 | c.*35 others(12): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3394 | chr11 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38644817 | T | TA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(13): Show | a0001c0001t0002g0132 a0001c0001t0003g0221 a0001c0001t0003g0254 others(59): Show |
62 | 309 | 0.2006 | 1 | c.-29 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 2831 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38649186 | C | CG | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01978.hp1 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0205 a0001c0001t0002g0082 a0001c0001t0002g0206 others(22): Show |
25 | 309 | 0.0809 | 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 | 38653085 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(14): Show | a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 others(57): Show |
61 | 214 | 0.2850 | 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 | 38654561 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01891.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(11): Show | a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 others(42): Show |
46 | 258 | 0.1783 | 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 | 38659921 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(120): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0170 a0001c0001t0002g0099 a0001c0001t0002g0100 others(117): Show |
123 | 227 | 0.5419 | 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 | 38662909 | G | GT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0043others(12): Show | a0001c0001t0002g0094 a0001c0001t0003g0254 a0001c0001t0043g0077 others(33): Show |
37 | 308 | 0.1201 | 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 | 38666223 | T | TC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp2 others(42): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0019 | a0001c0001t0036a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0036g0297 a0001c0002t0001g0026 a0001c0002t0001g0027 others(42): Show |
45 | 290 | 0.1552 | 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 | 38667706 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(102): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(16): Show | a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 others(101): Show |
105 | 298 | 0.3523 | 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 | 38670921 | T | TA | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG02738.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0113 a0001c0001t0003g0301 a0001c0002t0001g0010 others(6): Show |
9 | 296 | 0.0304 | 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 | 38670932 | A | AC | 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 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38671694 | A | AT | 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 | 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 | 38672238 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0002g0210 others(180): Show |
186 | 295 | 0.6305 | 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 | 38672943 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0025others(16): Show | a0001c0001t0002g0100 a0001c0001t0002g0163 a0001c0001t0002g0166 others(66): Show |
70 | 305 | 0.2295 | 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 | 38673665 | T | TC | intron_variant | MODIFIER | HG02896.hp2 HG03139.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0040a0001c0001t0043others(1): Show | a0001c0001t0018g0084 a0001c0001t0018g0196 a0001c0001t0040g0298 others(3): Show |
6 | 312 | 0.0192 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673681 | T | TA | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(2): Show |
5 | 312 | 0.0160 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673690 | A | AT | intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0043 | a0001c0001t0018g0084 a0001c0001t0018g0196 a0001c0001t0043g0077 |
3 | 310 | 0.0097 | 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 | 38673701 | T | TA | intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0043 | a0001c0001t0018g0084 a0001c0001t0018g0196 a0001c0001t0043g0077 |
3 | 312 | 0.0096 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673784 | A | AT | intron_variant | MODIFIER | HG01261.hp2 HG01952.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0019others(5): Show | a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0106 others(9): Show |
12 | 196 | 0.0612 | 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 | 38674166 | G | GT | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 NA20300.hp2 |
a0002 | a0002c0008 | a0002c0008t0011 | a0002c0008t0011g0283 a0002c0008t0011g0284 a0002c0008t0011g0285 |
3 | 312 | 0.0096 | 1 | c.162 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38676139 | C | CG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(23): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0005others(5): Show | a0001c0002t0001g0226 a0001c0004t0001g0229 a0001c0004t0001g0234 others(23): Show |
26 | 312 | 0.0833 | 1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38679859 | G | GA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(29): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(4): Show | a0001c0002t0010a0001c0002t0027a0001c0002t0042others(8): Show | a0001c0002t0010g0005 a0001c0002t0010g0304 a0001c0002t0027g0303 others(28): Show |
32 | 312 | 0.1026 | 1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38680212 | G | GT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00642.hp1 others(31): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0087 a0001c0001t0001g0205 a0001c0001t0002g0082 others(31): Show |
34 | 102 | 0.3333 | 1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38681129 | G | GA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(13): Show | a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0099 others(61): Show |
64 | 209 | 0.3062 | 1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38686965 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(83): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0020others(1): Show | a0001c0001t0016a0001c0002t0001a0001c0002t0005others(8): Show | a0001c0001t0016g0302 a0001c0002t0001g0006 a0001c0002t0001g0007 others(83): Show |
86 | 280 | 0.3071 | 1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38688390 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG00735.hp2 others(60): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0205 a0001c0001t0002g0081 a0001c0001t0002g0099 others(59): Show |
63 | 165 | 0.3818 | 1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38688732 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(17): Show | a0001c0001t0002g0166 a0001c0001t0003g0221 a0001c0001t0003g0254 others(61): Show |
65 | 311 | 0.2090 | 1 | c.163 others(10): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38691401 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0019a0001c0002t0001a0001c0002t0006others(6): Show | a0001c0001t0019g0198 a0001c0001t0019g0199 a0001c0002t0001g0218 others(26): Show |
29 | 306 | 0.0948 | 1 | c.163 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38694264 | C | CT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp1 others(29): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(4): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0027others(9): Show | a0001c0002t0001g0288 a0001c0002t0010g0005 a0001c0002t0010g0304 others(28): Show |
32 | 309 | 0.1036 | 1 | c.163 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38694879 | C | CG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0002g0119 a0001c0001t0002g0166 a0001c0002t0001g0022 others(24): Show |
27 | 311 | 0.0868 | 1 | c.163 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38699754 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(12): Show | a0001c0001t0002g0155 a0001c0001t0003g0221 a0001c0001t0003g0254 others(62): Show |
67 | 311 | 0.2154 | 1 | c.163 others(8): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38703236 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(72): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(9): Show | a0001c0001t0001g0205 a0001c0002t0001g0006 a0001c0002t0001g0007 others(72): Show |
75 | 220 | 0.3409 | 1 | c.398 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38703405 | A | AT | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(21): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0004t0005a0001c0004t0029others(3): Show | a0001c0004t0001g0229 a0001c0004t0001g0234 a0001c0004t0001g0235 others(21): Show |
24 | 312 | 0.0769 | 1 | c.398 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38712246 | A | AG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(22): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0003a0001c0004t0001a0001c0004t0005others(4): Show | a0001c0001t0003g0258 a0001c0004t0001g0229 a0001c0004t0001g0234 others(22): Show |
25 | 312 | 0.0801 | 1 | c.819 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38726287 | C | CA | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01257.hp1 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0024others(6): Show | a0001c0001t0002g0099 a0001c0001t0002g0138 a0001c0001t0002g0175 others(11): Show |
14 | 288 | 0.0486 | 1 | c.219 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38727627 | A | AC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00733.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0019others(7): Show | a0001c0001t0002g0153 a0001c0001t0002g0163 a0001c0001t0002g0209 others(27): Show |
30 | 300 | 0.1000 | 1 | c.233 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728448 | T | TC | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG03942.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0299 others(6): Show |
9 | 306 | 0.0294 | 1 | c.241 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38730090 | C | CA | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02135.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(7): Show | a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0002g0169 others(19): Show |
22 | 284 | 0.0775 | 1 | c.*67 others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 671 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38730130 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0012a0001c0001t0016a0001c0001t0021others(10): Show | a0001c0001t0012g0129 a0001c0001t0012g0131 a0001c0001t0012g0147 others(32): Show |
35 | 286 | 0.1224 | 1 | c.*71 others(5): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 713 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38731572 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01952.hp1 NA18747.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0024 a0001c0002t0006g0214 a0001c0002t0006g0215 others(4): Show |
7 | 312 | 0.0224 | 1 | c.*21 others(6): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 2142 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38733095 | T | TG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(39): Show |
a0001a0004 | a0001c0002a0001c0020a0004c0019 | a0001c0002t0001a0001c0002t0005a0001c0002t0030others(4): Show | a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0027 others(39): Show |
42 | 311 | 0.1350 | 1 | c.*36 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1507 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38733103 | C | CT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(16): Show | a0001c0001t0002g0099 a0001c0001t0002g0149 a0001c0001t0002g0299 others(52): Show |
57 | 298 | 0.1913 | 1 | c.*36 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1515 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735082 | A | AG | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01169.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0205 a0001c0001t0002g0113 a0001c0001t0002g0135 others(18): Show |
21 | 312 | 0.0673 | 1 | c.*56 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3494 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735309 | A | AG | downstream_gene_variant | MODIFIER | HG01169.hp1 HG01517.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0002g0148 a0001c0001t0003g0255 a0001c0002t0001g0062 others(6): Show |
9 | 311 | 0.0289 | 1 | c.*58 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3721 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735930 | G | GC | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0004t0005a0001c0006t0005others(1): Show | a0001c0004t0001g0229 a0001c0004t0005g0228 a0001c0006t0005g0236 others(1): Show |
4 | 188 | 0.0213 | 1 | c.*64 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4342 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735937 | G | GC | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0005 | a0001c0007a0005c0018 | a0001c0007t0001a0005c0018t0001 | a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 others(1): Show |
4 | 274 | 0.0146 | 1 | c.*65 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4349 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736018 | G | GC | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02155.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0013a0001c0001t0014a0001c0001t0021others(3): Show | a0001c0001t0013g0305 a0001c0001t0013g0306 a0001c0001t0014g0291 others(4): Show |
7 | 311 | 0.0225 | 1 | c.*65 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4430 | chr19 | TogoVar |