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 | 236714555 | T | TA | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00673.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0139 a0001c0001t0001g0141 others(37): Show |
40 | 344 | 0.1163 | 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 |
a0001a0008 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0007others(4): Show | a0001c0001t0004g0246 a0001c0002t0002g0245 a0001c0002t0007g0201 others(4): Show |
7 | 344 | 0.0204 | 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 |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 others(27): Show |
30 | 344 | 0.0872 | 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 |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0011 a0001c0001t0003g0020 a0001c0001t0003g0149 others(18): Show |
21 | 344 | 0.0611 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0042 others(17): Show |
20 | 344 | 0.0581 | 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 |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0011 a0001c0001t0003g0020 a0001c0001t0003g0173 others(17): Show |
20 | 344 | 0.0581 | 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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011 a0001c0001t0003g0020 a0001c0001t0004g0003 others(25): Show |
28 | 344 | 0.0814 | 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 |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0103 a0001c0001t0001g0244 a0001c0001t0003g0238 others(44): Show |
47 | 344 | 0.1366 | 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 | a0001c0001t0001g0041 a0001c0001t0001g0139 a0001c0001t0001g0141 others(24): Show |
27 | 344 | 0.0785 | 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 | 236717896 | C | CG | frameshift_variant | HIGH | NA18991.hp2 | a0008 | a0008c0036 | a0008c0036t0007 | a0008c0036t0007g0323 | 1 | 344 | 0.0029 | 1 | c.167 others(4): Show |
p.Thr others(4): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 343/4872 | 168/2685 | 56/894 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTN2_chr1_236681499_236769631 | 236717907 | T | TG | frameshift_variant | HIGH | NA19063.hp2 | a0009 | a0009c0035 | a0009c0035t0003 | a0009c0035t0003g0169 | 1 | 344 | 0.0029 | 1 | c.176 others(8): Show |
p.Ile others(4): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 352/4872 | 177/2685 | 59/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236717911 | G | GT | frameshift_variant others(1): Show |
HIGH | NA19063.hp2 | a0009 | a0009c0035 | a0009c0035t0003 | a0009c0035t0003g0169 | 1 | 344 | 0.0029 | 1 | c.180 others(8): Show |
p.Asn others(4): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 356/4872 | 181/2685 | 61/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236717961 | A | AC | frameshift_variant | HIGH | NA19063.hp2 | a0009 | a0009c0035 | a0009c0035t0003 | a0009c0035t0003g0169 | 1 | 344 | 0.0029 | 1 | c.230 others(8): Show |
p.Glu others(4): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2/21 | 406/4872 | 231/2685 | 77/894 | chr1 | TogoVar | |||
ACTN2_chr1_236681499_236769631 | 236721014 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(5): Show | a0001c0001t0001g0031 a0001c0001t0001g0205 a0001c0001t0001g0221 others(28): Show |
31 | 344 | 0.0901 | 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 | a0001c0003a0001c0006a0001c0010others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(7): Show | a0001c0003t0001g0129 a0001c0003t0002g0170 a0001c0003t0005g0047 others(16): Show |
19 | 344 | 0.0552 | 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 |
a0001a0010 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0041 a0001c0001t0001g0139 a0001c0001t0001g0141 others(30): Show |
33 | 344 | 0.0959 | 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(283): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(283): Show |
286 | 344 | 0.8314 | 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 |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0205 others(97): Show |
100 | 344 | 0.2907 | 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 |
a0001a0009a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0158 a0001c0001t0001g0224 a0001c0001t0001g0317 others(21): Show |
24 | 344 | 0.0698 | 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(165): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(165): Show |
168 | 344 | 0.4884 | 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 | a0001c0001t0001g0110 a0001c0001t0012g0019 a0001c0001t0012g0109 others(19): Show |
22 | 344 | 0.0640 | 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 | a0001c0001t0005g0055 a0001c0001t0011g0067 a0001c0001t0011g0090 others(3): Show |
6 | 344 | 0.0174 | 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(125): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(125): Show |
128 | 344 | 0.3721 | 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 | a0001c0001t0004g0037 a0001c0001t0004g0071 a0001c0001t0004g0074 others(10): Show |
13 | 344 | 0.0378 | 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 | a0001c0001t0003g0238 a0001c0001t0004g0075 a0001c0001t0004g0178 others(4): Show |
7 | 344 | 0.0204 | 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 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0004a0001c0007t0004a0001c0009t0002others(2): Show | a0001c0001t0004g0028 a0001c0007t0004g0070 a0001c0007t0004g0083 others(5): Show |
8 | 344 | 0.0233 | 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 a0001c0001t0004g0074 a0001c0001t0004g0078 others(10): Show |
13 | 344 | 0.0378 | 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 | a0001c0001t0003g0238 a0001c0001t0004g0069 a0001c0001t0011g0036 others(10): Show |
13 | 344 | 0.0378 | 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 | 236757529 | G | GA | frameshift_variant | HIGH | NA19072.hp1 | a0010 | a0010c0022 | a0010c0022t0003 | a0010c0022t0003g0038 | 1 | 344 | 0.0029 | 1 | c.220 others(5): Show |
p.Thr others(5): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 18/21 | 2376/4872 | 2201/2685 | 734/894 | 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 | a0001c0001t0012g0019 a0001c0001t0012g0109 a0001c0001t0012g0337 others(18): Show |
21 | 344 | 0.0611 | 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 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(7): Show | a0001c0001t0001g0242 a0001c0001t0003g0234 a0001c0001t0017g0097 others(16): Show |
19 | 344 | 0.0552 | 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 |
a0001a0009a0010 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0275 others(60): Show |
63 | 344 | 0.1831 | 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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0018others(14): Show | a0001c0001t0002g0156 a0001c0001t0011g0067 a0001c0001t0011g0090 others(82): Show |
85 | 344 | 0.2471 | 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 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0312 a0001c0001t0003g0238 a0001c0001t0004g0102 others(63): Show |
66 | 344 | 0.1919 | 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 |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0032 a0001c0001t0002g0156 a0001c0001t0003g0104 others(86): Show |
89 | 344 | 0.2587 | 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(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0291 others(22): Show |
25 | 344 | 0.0727 | 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 |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0032 a0001c0001t0001g0260 a0001c0001t0002g0156 others(86): Show |
89 | 344 | 0.2587 | 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(300): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0008others(20): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(137): Show |
303 | 400 | 0.7575 | 1 | c.148 others(9): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66553853 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(84): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0034others(6): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 others(44): Show |
87 | 400 | 0.2175 | 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(2): Show | a0001c0001a0002c0002a0002c0008others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(6): Show | a0001c0001t0001g0100 a0001c0001t0001g0103 a0002c0002t0001g0019 others(15): Show |
24 | 400 | 0.0600 | 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(172): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0008others(14): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(92): Show |
175 | 400 | 0.4375 | 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 | 66555171 | A | AC | frameshift_variant | HIGH | HG02080.hp1 NA18956.hp2 NA18981.hp2 |
a0007 | a0007c0009a0007c0017 | a0007c0009t0001a0007c0017t0001 | a0007c0009t0001g0019 a0007c0009t0001g0102 a0007c0017t0001g0143 |
3 | 400 | 0.0075 | 1 | c.601 others(4): Show |
p.Arg others(5): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 6/21 | 637/2882 | 602/2706 | 201/901 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
ACTN3_chr11_66541903_66568334 | 66557724 | T | TC | frameshift_variant | HIGH | NA18974.hp2 | a0022 | a0022c0033 | a0022c0033t0001 | a0022c0033t0001g0065 | 1 | 400 | 0.0025 | 1 | c.926 others(4): Show |
p.Trp others(5): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 10/21 | 962/2882 | 927/2706 | 309/901 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
ACTN3_chr11_66541903_66568334 | 66557886 | G | GC | frameshift_variant | HIGH | NA18974.hp2 | a0022 | a0022c0033 | a0022c0033t0001 | a0022c0033t0001g0065 | 1 | 400 | 0.0025 | 1 | c.108 others(5): Show |
p.His others(5): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 10/21 | 1123/2882 | 1088/2706 | 363/901 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
ACTN3_chr11_66541903_66568334 | 66558086 | G | GC | frameshift_variant | HIGH | NA18957.hp1 | a0021 | a0021c0016 | a0021c0016t0002 | a0021c0016t0002g0062 | 1 | 400 | 0.0025 | 1 | c.118 others(5): Show |
p.Leu others(5): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 11/21 | 1225/2882 | 1190/2706 | 397/901 | 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 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0013 | a0001c0001t0001a0002c0002t0001a0008c0013t0001 | a0001c0001t0001g0011 a0001c0001t0001g0116 a0001c0001t0001g0117 others(4): Show |
7 | 400 | 0.0175 | 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 |
a0001a0004a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(18): Show | a0001c0001t0002g0154 a0001c0001t0004g0221 a0001c0001t0004g0255 others(59): Show |
62 | 314 | 0.1975 | 1 | c.-29 others(12): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 2831 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38647817 | C | CG | frameshift_variant | HIGH | NA18955.hp2 | a0010 | a0010c0026 | a0010c0026t0006 | a0010c0026t0006g0249 | 1 | 314 | 0.0032 | 1 | c.77d others(3): Show |
p.Ser others(4): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/21 | 175/4990 | 78/2736 | 26/911 | INFO_REALIGN_3_PRIME | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0205 a0001c0001t0002g0081 a0001c0001t0002g0206 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 | 38653085 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(59): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(17): Show | a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0011g0281 others(58): Show |
62 | 314 | 0.1975 | 1 | c.162 others(9): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |