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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTMAP_chr19_40735861_40755477 | 40748984 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01167.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0076 a0001c0001t0001g0080 others(12): Show |
23 | 406 | 0.0567 | 1 | c.323 others(8): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40749404 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(94): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0076 others(33): Show |
97 | 393 | 0.2468 | 1 | c.323 others(7): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40752579 | C | CA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0027a0002c0002t0002a0002c0002t0006others(5): Show | a0001c0001t0027g0037 a0002c0002t0002g0002 a0002c0002t0002g0126 others(7): Show |
14 | 105 | 0.1333 | 1 | c.-27 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2103 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40753348 | C | CA | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0017 | a0001c0001t0001g0001 a0001c0001t0002g0038 a0001c0004t0017g0023 |
6 | 408 | 0.0147 | 1 | c.-35 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2872 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40754100 | G | GT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0093 others(24): Show |
43 | 233 | 0.1845 | 1 | c.-42 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 3624 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | C | CT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(28): Show |
51 | 284 | 0.1796 | 1 | c.-54 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68870477 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(11): Show | a0001c0001t0001g0139 a0001c0001t0001g0185 a0001c0001t0001g0194 others(100): Show |
105 | 172 | 0.6105 | 1 | c.*43 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3650 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68873838 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(101): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0223 others(99): Show |
104 | 282 | 0.3688 | 1 | c.*10 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 289 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68879195 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(109): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0153 others(108): Show |
112 | 270 | 0.4148 | 1 | c.228 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 18/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68881954 | T | TG | intron_variant | MODIFIER | HG02083.hp2 HG02965.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0280 others(1): Show |
4 | 275 | 0.0145 | 1 | c.195 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68883473 | T | TA | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0152 a0001c0001t0001g0226 a0001c0001t0001g0227 others(11): Show |
14 | 282 | 0.0496 | 1 | c.163 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 14/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68886969 | A | AT | intron_variant | MODIFIER | HG01069.hp1 HG02602.hp2 NA18948.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0002g0037 others(5): Show |
8 | 280 | 0.0286 | 1 | c.123 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68889538 | T | TA | intron_variant | MODIFIER | HG01069.hp1 HG02602.hp2 NA20129.hp2 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0001a0002c0007t0001 | a0001c0004t0001g0146 a0001c0004t0001g0251 a0002c0007t0001g0249 |
3 | 282 | 0.0106 | 1 | c.123 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68889783 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 others(12): Show |
15 | 264 | 0.0568 | 1 | c.123 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68893642 | C | CA | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG03579.hp2 others(1): Show |
a0001a0006 | a0001c0003a0001c0018a0001c0019others(1): Show | a0001c0003t0007a0001c0018t0001a0001c0019t0001others(1): Show | a0001c0003t0007g0105 a0001c0018t0001g0258 a0001c0019t0001g0259 others(1): Show |
4 | 282 | 0.0142 | 1 | c.855 others(14): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 9/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68901217 | G | GT | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01074.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0160 a0001c0001t0001g0184 a0001c0001t0001g0229 others(15): Show |
18 | 282 | 0.0638 | 1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68901249 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(76): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(13): Show | a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0166 others(76): Show |
79 | 223 | 0.3543 | 1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68903536 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 others(64): Show |
70 | 244 | 0.2869 | 1 | c.677 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 7/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68905982 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp1 others(58): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(57): Show |
61 | 273 | 0.2234 | 1 | c.595 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68906986 | A | AG | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00738.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 others(37): Show |
40 | 282 | 0.1418 | 1 | c.595 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68907257 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01516.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0225 others(11): Show |
15 | 282 | 0.0532 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68907259 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(55): Show |
58 | 272 | 0.2132 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68908010 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01516.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0001g0238 others(7): Show |
10 | 278 | 0.0360 | 1 | c.594 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68918731 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(104): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(104): Show |
107 | 281 | 0.3808 | 1 | c.340 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68925318 | C | CT | intron_variant | MODIFIER | HG01433.hp2 HG02602.hp1 HG02622.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0163 a0001c0001t0001g0236 a0001c0001t0001g0244 others(9): Show |
12 | 151 | 0.0795 | 1 | c.220 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68925341 | T | TA | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0200 a0001c0001t0002g0001 |
3 | 280 | 0.0107 | 1 | c.220 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68929462 | G | GC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(223): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 others(221): Show |
226 | 282 | 0.8014 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68932513 | C | CT | intron_variant | MODIFIER | HG00597.hp1 HG01891.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0007 | a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0002g0001 others(2): Show |
6 | 215 | 0.0279 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68932539 | T | TA | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0229 others(12): Show |
15 | 190 | 0.0789 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68935387 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00639.hp2 others(53): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(8): Show | a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0001g0185 others(53): Show |
56 | 94 | 0.5957 | 1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68938910 | A | AG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01081.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0168 others(22): Show |
25 | 282 | 0.0887 | 1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68945163 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(232): Show |
238 | 275 | 0.8655 | 1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68958520 | T | TA | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0153 a0001c0001t0002g0001 a0001c0001t0002g0013 others(3): Show |
7 | 281 | 0.0249 | 1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68960748 | T | TA | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0153 a0001c0001t0002g0026 a0001c0001t0002g0071 others(4): Show |
7 | 155 | 0.0452 | 1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68971115 | T | TA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01255.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 others(3): Show |
6 | 282 | 0.0213 | 1 | c.105 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68977800 | T | TC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0008others(5): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(49): Show |
53 | 143 | 0.3706 | 1 | c.105 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68977807 | C | CA | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 others(2): Show |
5 | 282 | 0.0177 | 1 | c.105 others(18): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68981689 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(195): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(192): Show |
198 | 282 | 0.7021 | 1 | c.-26 others(12): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2388 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236684104 | C | CT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01243.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0111 a0001c0001t0001g0137 a0001c0001t0001g0139 others(19): Show |
22 | 338 | 0.0651 | 1 | c.-25 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2394 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236685007 | A | AG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(81): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(80): Show |
84 | 342 | 0.2456 | 1 | c.-16 others(12): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1491 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236688185 | G | GT | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0006a0001c0002t0002a0001c0003t0001others(6): Show | a0001c0001t0006g0134 a0001c0002t0002g0246 a0001c0003t0001g0001 others(14): Show |
18 | 342 | 0.0526 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236688376 | C | CT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0115 a0001c0001t0004g0118 a0001c0001t0004g0120 others(10): Show |
13 | 324 | 0.0401 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236690935 | C | CT | intron_variant | MODIFIER | HG02083.hp1 NA18939.hp2 NA18943.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0003a0001c0002t0002a0002c0008t0004others(1): Show | a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0200 others(3): Show |
6 | 122 | 0.0492 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236692797 | A | AG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(327): Show |
331 | 342 | 0.9678 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236694203 | A | AT | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0006a0001c0001t0015a0001c0003t0001others(5): Show | a0001c0001t0006g0134 a0001c0001t0015g0117 a0001c0003t0001g0001 others(14): Show |
18 | 329 | 0.0547 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236694220 | C | CT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01175.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0001g0115 a0001c0001t0001g0341 a0001c0001t0004g0245 others(7): Show |
10 | 338 | 0.0296 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236695212 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0042 others(217): Show |
221 | 319 | 0.6928 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236695375 | C | CA | intron_variant | MODIFIER | HG00609.hp2 HG01169.hp2 HG01258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(6): Show | a0001c0001t0003g0040 a0001c0001t0003g0105 a0001c0001t0003g0106 others(10): Show |
13 | 336 | 0.0387 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236695563 | T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0104 others(143): Show |
146 | 258 | 0.5659 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236696666 | A | AT | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01168.hp2 others(18): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0111 a0001c0001t0001g0193 a0001c0001t0001g0222 others(18): Show |
21 | 222 | 0.0946 | 1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |