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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN1_chr14_68869128_68984302 | 68932886 | CCT | C | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0153 a0001c0001t0001g0184 a0001c0001t0001g0261 others(1): Show |
4 | 282 | 0.0142 | -2 | c.106 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68933980 | GAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 others(68): Show |
73 | 246 | 0.2967 | -2 | c.106 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68935387 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00738.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(60): Show |
63 | 101 | 0.6238 | -2 | c.106 others(19): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68942202 | ACT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 others(63): Show |
68 | 282 | 0.2411 | -2 | c.106 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236684110 | TTA | T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01433.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0222 a0001c0001t0001g0260 a0001c0001t0001g0284 others(9): Show |
12 | 342 | 0.0351 | -2 | c.-25 others(13): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2388 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236685752 | CGA | C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02897.hp2 HG03098.hp1 |
a0001a0005 | a0001c0011a0005c0017 | a0001c0011t0004a0001c0011t0005a0005c0017t0024 | a0001c0011t0004g0102 a0001c0011t0005g0101 a0005c0017t0024g0100 |
3 | 342 | 0.0088 | -2 | c.-92 others(11): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 746 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236685840 | CGA | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0006a0001c0001t0015a0001c0003t0006others(6): Show | a0001c0001t0006g0134 a0001c0001t0015g0117 a0001c0003t0006g0125 others(15): Show |
18 | 333 | 0.0541 | -2 | c.-83 others(11): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 658 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236689300 | GAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01109.hp1 others(14): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0003g0232 others(14): Show |
17 | 165 | 0.1030 | -2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236690935 | CTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG01496.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 others(9): Show |
12 | 128 | 0.0938 | -2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236693177 | GCA | G | intron_variant | MODIFIER | HG02647.hp2 HG02683.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0223 a0001c0001t0004g0118 a0001c0001t0004g0120 others(2): Show |
5 | 24 | 0.2083 | -2 | c.126 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236705522 | GGT | G | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 HG03688.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0003g0021 a0001c0001t0004g0004 a0001c0001t0004g0016 others(6): Show |
9 | 342 | 0.0263 | -2 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236707709 | CTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00673.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0013 a0001c0001t0001g0104 a0001c0001t0001g0137 others(67): Show |
70 | 78 | 0.8974 | -2 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236709220 | GTA | G | intron_variant | MODIFIER | HG01106.hp2 HG02257.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0223 a0001c0001t0004g0075 a0001c0001t0004g0079 others(5): Show |
8 | 199 | 0.0402 | -2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236712920 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01123.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0001g0188 others(40): Show |
43 | 144 | 0.2986 | -2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715155 | CTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01433.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0006a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0001t0006g0134 a0001c0003t0001g0001 a0001c0003t0002g0053 others(21): Show |
25 | 229 | 0.1092 | -2 | c.127 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721020 | TTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0001g0115 others(6): Show |
9 | 342 | 0.0263 | -2 | c.448 others(17): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236724838 | CTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02698.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0182 a0001c0001t0005g0056 a0001c0001t0011g0091 others(3): Show |
6 | 63 | 0.0952 | -2 | c.449 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236739232 | ATT | A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01106.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0042 a0001c0001t0001g0137 a0001c0001t0001g0139 others(22): Show |
25 | 338 | 0.0740 | -2 | c.877 others(15): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236746165 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01109.hp2 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0018 a0001c0001t0001g0278 a0001c0001t0002g0154 others(53): Show |
56 | 132 | 0.4242 | -2 | c.140 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236751089 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(95): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0018 a0001c0001t0001g0139 a0001c0001t0001g0182 others(95): Show |
98 | 164 | 0.5976 | -2 | c.165 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236765120 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(19): Show | a0001c0001t0002g0154 a0001c0001t0005g0149 a0001c0001t0005g0179 others(83): Show |
86 | 204 | 0.4216 | -2 | c.*25 others(13): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 490 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236768415 | GTT | G | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02683.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0005 | a0001c0001t0001g0320 a0001c0001t0002g0154 a0001c0004t0005g0057 others(4): Show |
7 | 199 | 0.0352 | -2 | c.*57 others(13): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3785 | chr1 | TogoVar | |||||||
ACTN3_chr11_66541903_66568334 | 66547394 | AGG | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(43): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0003a0003c0007others(2): Show | a0001c0001t0001a0003c0003t0002a0003c0007t0001others(2): Show | a0001c0001t0001g0169 a0003c0003t0002g0002 a0003c0003t0002g0015 others(16): Show |
46 | 398 | 0.1156 | -2 | c.147 others(17): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66552880 | TCA | T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0024 others(7): Show |
17 | 243 | 0.0700 | -2 | c.383 others(19): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38660981 | AAG | A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0002a0001c0010a0001c0011 | a0001c0002t0010a0001c0002t0027a0001c0010t0001others(1): Show | a0001c0002t0010g0005 a0001c0002t0010g0304 a0001c0002t0027g0303 others(2): Show |
6 | 312 | 0.0192 | -2 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673475 | TTA | T | intron_variant | MODIFIER | HG00438.hp1 HG01978.hp1 HG02015.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0034 | a0001c0001t0002g0001 a0001c0001t0002g0094 a0001c0001t0002g0111 others(8): Show |
12 | 297 | 0.0404 | -2 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673565 | ATT | A | intron_variant | MODIFIER | HG00733.hp2 HG01123.hp1 HG01257.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0063 others(1): Show |
4 | 312 | 0.0128 | -2 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673577 | TCA | T | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0037a0001c0007t0001a0005c0018t0001 | a0001c0002t0037g0203 a0001c0007t0001g0200 a0001c0007t0001g0202 others(2): Show |
5 | 310 | 0.0161 | -2 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673628 | CAT | C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0021a0001c0001t0022 | a0001c0001t0014g0291 a0001c0001t0021g0004 a0001c0001t0022g0004 |
3 | 308 | 0.0097 | -2 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673753 | ATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(74): Show |
a0001a0004 | a0001c0002a0004c0019 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(5): Show | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0010 others(74): Show |
77 | 312 | 0.2468 | -2 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673784 | ATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(82): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0036a0001c0002t0001a0001c0002t0005others(9): Show | a0001c0001t0036g0297 a0001c0002t0001g0006 a0001c0002t0001g0007 others(82): Show |
85 | 269 | 0.3160 | -2 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38679568 | CGT | C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(32): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(12): Show | a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0003g0276 others(32): Show |
35 | 133 | 0.2632 | -2 | c.163 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38681129 | GAA | G | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(3): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0027others(6): Show | a0001c0002t0001g0028 a0001c0002t0010g0005 a0001c0002t0010g0304 others(8): Show |
12 | 157 | 0.0764 | -2 | c.163 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38687225 | GCC | G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02818.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0011a0001c0001t0013a0001c0001t0014others(3): Show | a0001c0001t0011g0286 a0001c0001t0013g0305 a0001c0001t0013g0306 others(7): Show |
10 | 288 | 0.0347 | -2 | c.163 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38691413 | AAC | A | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(4): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0001a0001c0002t0037a0001c0007t0001others(1): Show | a0001c0002t0001g0021 a0001c0002t0001g0041 a0001c0002t0037g0203 others(4): Show |
7 | 312 | 0.0224 | -2 | c.163 others(19): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38703236 | ATT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(14): Show | a0001c0001t0003g0221 a0001c0001t0003g0254 a0001c0001t0003g0255 others(42): Show |
46 | 191 | 0.2408 | -2 | c.398 others(19): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38716858 | CAA | C | 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 | -2 | c.913 others(17): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 9/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38732792 | AGT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(27): Show | a0001c0001t0003g0221 a0001c0001t0003g0254 a0001c0001t0003g0255 others(83): Show |
89 | 312 | 0.2853 | -2 | c.*33 others(13): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1204 | chr19 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58195499 | CAA | C | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG02080.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0010 a0001c0001t0002g0211 a0001c0001t0006g0026 others(6): Show |
9 | 262 | 0.0344 | -2 | c.-47 others(13): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 4649 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58198850 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(196): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(164): Show |
199 | 248 | 0.8024 | -2 | c.-13 others(13): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 1298 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58221280 | TAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(76): Show |
97 | 248 | 0.3911 | -2 | c.634 others(19): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58222764 | GAA | G | intron_variant | MODIFIER | HG00323.hp2 HG01169.hp1 HG01256.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0106 a0001c0001t0002g0244 a0001c0001t0005g0133 others(6): Show |
9 | 35 | 0.2571 | -2 | c.635 others(17): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58228681 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(29): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0019others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0039 others(27): Show |
32 | 85 | 0.3765 | -2 | c.789 others(19): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58228973 | TAC | T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01106.hp1 others(22): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(3): Show | a0001c0001t0005g0022 a0001c0001t0005g0114 a0001c0001t0005g0123 others(19): Show |
25 | 320 | 0.0781 | -2 | c.789 others(19): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58231349 | CAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0025 others(14): Show |
28 | 320 | 0.0875 | -2 | c.871 others(17): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 11/12 | chr14 | TogoVar | |||||||
ACTR10_chr14_58195149_58240636 | 58232404 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(99): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(84): Show |
102 | 213 | 0.4789 | -2 | c.107 others(19): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58232872 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0001g0075 a0001c0001t0001g0120 a0001c0001t0003g0001 others(44): Show |
61 | 173 | 0.3526 | -2 | c.107 others(19): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58234025 | TGA | T | intron_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG02015.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0024 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0201 others(5): Show |
9 | 320 | 0.0281 | -2 | c.107 others(19): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58234818 | CTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(89): Show |
111 | 205 | 0.5415 | -2 | c.*28 others(11): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 13/13 | 287 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTR1A_chr10_102474229_102507712 | 102478338 | CAA | C | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02922.hp1 HG03041.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0008a0003c0003t0003 | a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0013 others(15): Show |
22 | 126 | 0.1746 | -2 | c.*25 others(13): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 890 | chr10 | TogoVar |