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 | 236697760 | C | CT | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00639.hp2 others(66): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0111 a0001c0001t0001g0137 a0001c0001t0001g0139 others(65): Show |
69 | 329 | 0.2097 | 1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236697934 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0104 others(239): Show |
243 | 312 | 0.7788 | 1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236697946 | T | TA | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 NA18522.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0002a0001c0003t0005a0001c0006t0002 | a0001c0003t0002g0168 a0001c0003t0005g0170 a0001c0006t0002g0169 |
3 | 342 | 0.0088 | 1 | c.126 others(20): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236698224 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(314): Show |
318 | 340 | 0.9353 | 1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236702132 | T | TA | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0018a0001c0002t0002a0001c0004t0005others(1): Show | a0001c0001t0018g0307 a0001c0002t0002g0272 a0001c0002t0002g0286 others(3): Show |
6 | 342 | 0.0175 | 1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236703433 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00642.hp2 others(24): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0182 a0001c0001t0001g0219 a0001c0001t0001g0279 others(24): Show |
27 | 293 | 0.0922 | 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 | 236713226 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(90): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0182 others(90): Show |
93 | 329 | 0.2827 | 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 | 236713573 | A | AG | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00639.hp2 others(89): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0013 a0001c0001t0001g0137 a0001c0001t0001g0139 others(88): Show |
92 | 342 | 0.2690 | 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 | 236713818 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0115 others(66): Show |
69 | 284 | 0.2430 | 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 | 236713885 | T | TA | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 NA18995.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0010a0001c0002t0002a0001c0004t0005others(1): Show | a0001c0001t0010g0045 a0001c0002t0002g0216 a0001c0002t0002g0227 others(2): Show |
5 | 299 | 0.0167 | 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 | 236713952 | T | TA | intron_variant | MODIFIER | HG00609.hp2 HG01891.hp1 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0003g0040 a0001c0001t0003g0112 a0001c0001t0004g0245 others(3): Show |
6 | 336 | 0.0179 | 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 | 236714086 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0252 a0001c0001t0001g0257 others(16): Show |
19 | 341 | 0.0557 | 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 | 236714220 | T | TA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp1 others(22): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(12): Show | a0001c0001t0003g0021 a0001c0001t0003g0236 a0001c0001t0004g0004 others(22): Show |
25 | 322 | 0.0776 | 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 | 236714287 | T | TA | intron_variant | MODIFIER | HG01243.hp1 HG02970.hp1 HG03654.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0029others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0311 a0001c0001t0003g0021 a0001c0001t0004g0004 others(4): Show |
7 | 250 | 0.0280 | 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 | 236714354 | T | TA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00738.hp1 others(45): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0013 a0001c0001t0001g0115 a0001c0001t0001g0258 others(45): Show |
48 | 340 | 0.1412 | 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 | 236714421 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01884.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0252 a0001c0001t0001g0260 others(20): Show |
23 | 339 | 0.0678 | 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 | 236714488 | T | TA | intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 HG03516.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0001t0011a0001c0001t0017others(3): Show | a0001c0001t0004g0103 a0001c0001t0011g0091 a0001c0001t0017g0098 others(3): Show |
6 | 276 | 0.0217 | 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 | 236714555 | T | TA | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00673.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0013 a0001c0001t0001g0137 a0001c0001t0001g0139 others(37): Show |
40 | 332 | 0.1205 | 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 | 236714622 | T | TA | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0007others(3): Show | a0001c0001t0004g0245 a0001c0002t0002g0244 a0001c0002t0007g0199 others(4): Show |
7 | 337 | 0.0208 | 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 | 236714689 | T | TA | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01106.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 others(27): Show |
30 | 328 | 0.0915 | 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 | 236714756 | T | TA | intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01975.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0013 a0001c0001t0003g0021 a0001c0001t0003g0147 others(18): Show |
21 | 330 | 0.0636 | 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 | 236714823 | T | TA | intron_variant | MODIFIER | HG01071.hp2 HG01943.hp2 HG01952.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0043 others(17): Show |
20 | 265 | 0.0755 | 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 | 236714890 | T | TA | intron_variant | MODIFIER | HG00323.hp1 HG02083.hp2 HG02129.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0013 a0001c0001t0003g0021 a0001c0001t0003g0171 others(17): Show |
20 | 260 | 0.0769 | 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 | 236714957 | T | TA | intron_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG01891.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0013 a0001c0001t0003g0021 a0001c0001t0004g0004 others(25): Show |
28 | 294 | 0.0952 | 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 | 236715308 | T | TC | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01123.hp2 others(44): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0104 a0001c0001t0001g0243 a0001c0001t0003g0236 others(43): Show |
47 | 339 | 0.1386 | 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 | 236716835 | A | AT | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01109.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0137 a0001c0001t0001g0139 others(24): Show |
27 | 32 | 0.8438 | 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 | 236721014 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0203 a0001c0001t0001g0219 others(27): Show |
30 | 342 | 0.0877 | 1 | c.448 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721022 | G | GT | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG01433.hp1 others(16): Show |
a0001a0003 | a0001c0003a0001c0006a0001c0011others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(7): Show | a0001c0003t0001g0001 a0001c0003t0002g0168 a0001c0003t0005g0048 others(16): Show |
19 | 62 | 0.3065 | 1 | c.448 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236722634 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00673.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0042 a0001c0001t0001g0137 a0001c0001t0001g0139 others(30): Show |
33 | 39 | 0.8462 | 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 | 236725636 | T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(282): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(282): Show |
285 | 322 | 0.8851 | 1 | c.449 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236728143 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(97): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0203 others(96): Show |
100 | 216 | 0.4630 | 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 | 236728617 | G | GT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01109.hp1 others(21): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0156 a0001c0001t0001g0222 a0001c0001t0001g0321 others(21): Show |
24 | 342 | 0.0702 | 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 | 236730271 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(164): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(164): Show |
167 | 311 | 0.5370 | 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 | 236731905 | C | CT | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01123.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0001others(7): Show | a0001c0001t0001g0111 a0001c0001t0012g0020 a0001c0001t0012g0110 others(18): Show |
22 | 342 | 0.0643 | 1 | c.697 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236732615 | G | GT | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0011a0001c0004t0002others(1): Show | a0001c0001t0005g0056 a0001c0001t0011g0074 a0001c0001t0011g0091 others(3): Show |
6 | 342 | 0.0175 | 1 | c.697 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737548 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(124): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(124): Show |
127 | 340 | 0.3735 | 1 | c.876 others(8): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236742535 | T | TA | intron_variant | MODIFIER | HG01361.hp1 HG02257.hp1 HG02280.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0004g0038 a0001c0001t0004g0071 a0001c0001t0004g0075 others(10): Show |
13 | 342 | 0.0380 | 1 | c.110 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236743569 | C | CT | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0236 a0001c0001t0004g0076 a0001c0001t0004g0176 others(4): Show |
7 | 324 | 0.0216 | 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 | C | CA | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02723.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0004a0001c0007t0004a0001c0010t0002others(2): Show | a0001c0001t0004g0029 a0001c0007t0004g0070 a0001c0007t0004g0084 others(5): Show |
8 | 84 | 0.0952 | 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 | 236751089 | C | CA | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01981.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0013a0001c0016others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0079 others(10): Show |
13 | 79 | 0.1646 | 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 | 236751221 | A | AT | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01261.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0003g0236 a0001c0001t0004g0069 a0001c0001t0011g0037 others(10): Show |
13 | 342 | 0.0380 | 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 | 236758325 | C | CG | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01169.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0012a0001c0003t0020a0001c0004t0002others(2): Show | a0001c0001t0012g0020 a0001c0001t0012g0110 a0001c0001t0012g0270 others(18): Show |
21 | 342 | 0.0614 | 1 | c.230 others(18): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236758452 | A | AT | intron_variant | MODIFIER | HG01192.hp1 HG01978.hp2 HG02015.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(6): Show | a0001c0001t0001g0240 a0001c0001t0003g0232 a0001c0001t0017g0098 others(16): Show |
19 | 310 | 0.0613 | 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 | 236765120 | C | CA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(60): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0278 others(60): Show |
63 | 181 | 0.3481 | 1 | c.*25 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 490 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236765375 | G | GA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0018others(13): Show | a0001c0001t0002g0154 a0001c0001t0011g0074 a0001c0001t0011g0091 others(82): Show |
85 | 342 | 0.2485 | 1 | c.*27 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 745 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236765665 | C | CA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01168.hp2 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0316 a0001c0001t0003g0236 a0001c0001t0004g0103 others(63): Show |
66 | 339 | 0.1947 | 1 | c.*30 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1035 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236767381 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0033 a0001c0001t0002g0154 a0001c0001t0003g0105 others(86): Show |
89 | 342 | 0.2602 | 1 | c.*47 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2751 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236768415 | G | GT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01123.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0296 others(21): Show |
24 | 216 | 0.1111 | 1 | c.*57 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3785 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236769433 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0033 a0001c0001t0001g0260 a0001c0001t0002g0154 others(86): Show |
89 | 334 | 0.2665 | 1 | c.*68 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4803 | chr1 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66549732 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0008others(18): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(122): Show |
302 | 354 | 0.8531 | 1 | c.148 others(9): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |