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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR3_chr2_113885089_113967596 | 113949476 | GTC | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(46): Show |
52 | 388 | 0.1340 | -2 | c.859 others(19): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113954302 | TAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01099.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031a0001c0001t0037 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(60): Show |
65 | 388 | 0.1675 | -2 | c.107 others(21): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 10/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113964322 | CTT | C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG03130.hp2 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0006 | a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0226 others(1): Show |
4 | 388 | 0.0103 | -2 | c.*68 others(13): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1727 | chr2 | TogoVar | |||||||
ACTR5_chr20_38743460_38777520 | 38750606 | GTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(61): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0006others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(6): Show | a0001c0001t0001g0092 a0002c0003t0001g0046 a0002c0003t0001g0049 others(30): Show |
64 | 195 | 0.3282 | -2 | c.605 others(17): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACTR5_chr20_38743460_38777520 | 38751142 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(54): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0006 | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(5): Show | a0001c0001t0001g0092 a0002c0003t0001g0049 a0002c0003t0002g0008 others(24): Show |
57 | 364 | 0.1566 | -2 | c.605 others(17): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACTR5_chr20_38743460_38777520 | 38768302 | CAT | C | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 3 | 364 | 0.0082 | -2 | c.156 others(19): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 8/8 | chr20 | TogoVar | |||||||
ACTR5_chr20_38743460_38777520 | 38774400 | ATC | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(108): Show |
a0002a0008a0010 | a0002c0002a0002c0003a0008c0011others(1): Show | a0002c0002t0001a0002c0003t0001a0008c0011t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 others(34): Show |
111 | 364 | 0.3049 | -2 | c.*25 others(13): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 1881 | chr20 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100196982 | CAA | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show |
11 | 223 | 0.0493 | -2 | c.-38 others(13): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 3832 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100198756 | TAC | T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00735.hp1 others(59): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(40): Show |
62 | 137 | 0.4526 | -2 | c.-20 others(13): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 2058 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100200509 | GAC | G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG01346.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0002a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(12): Show |
15 | 105 | 0.1429 | -2 | c.-34 others(11): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 305 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100211225 | TAA | T | intron_variant | MODIFIER | HG02809.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0032 |
2 | 240 | 0.0083 | -2 | c.572 others(17): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100213006 | CAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02257.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 others(19): Show |
29 | 176 | 0.1648 | -2 | c.750 others(17): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100220691 | TGG | T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02280.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 others(9): Show |
18 | 240 | 0.0750 | -2 | c.106 others(19): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100222899 | CTA | C | intron_variant | MODIFIER | HG01109.hp2 HG02965.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0006g0130 |
3 | 240 | 0.0125 | -2 | c.106 others(19): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100228606 | GAA | G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02015.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0141 others(3): Show |
6 | 113 | 0.0531 | -2 | c.*46 others(13): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 4183 | chr12 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53863314 | CTA | C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0030 a0001c0001t0002g0067 a0001c0001t0005g0072 |
4 | 430 | 0.0093 | -2 | c.*54 others(13): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3751 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53881857 | TCC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(347): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(80): Show |
350 | 430 | 0.8140 | -2 | c.123 others(17): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53882470 | CAT | C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG02976.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0058 |
9 | 430 | 0.0209 | -2 | c.-37 others(11): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 319 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53886775 | ACT | A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0030 a0001c0001t0002g0067 a0001c0001t0005g0072 |
4 | 430 | 0.0093 | -2 | c.-46 others(13): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 4624 | chr3 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3023852 | CGT | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02257.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0000 a0004c0005t0001g0000 |
12 | 348 | 0.0345 | -2 | c.*10 others(13): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 950 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3027626 | CGG | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00733.hp1 others(25): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0000 a0001c0007t0001g0000 a0002c0002t0001g0000 others(1): Show |
28 | 112 | 0.2500 | -2 | c.*48 others(13): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4724 | chr1 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770208 | AAT | A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02896.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0012 a0002c0004t0001g0032 |
4 | 416 | 0.0096 | -2 | c.-69 others(11): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 648 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770268 | AAT | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0042 |
5 | 416 | 0.0120 | -2 | c.-75 others(11): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 708 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770737 | CAT | C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02922.hp2 HG02976.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0045 a0003c0003t0001g0009 |
5 | 401 | 0.0125 | -2 | c.-12 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1177 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771174 | AAT | A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02602.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0008 |
5 | 407 | 0.0123 | -2 | c.-16 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1614 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771205 | AAT | A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02630.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 4 | 399 | 0.0100 | -2 | c.-16 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1645 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771236 | AAT | A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02630.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 a0002c0002t0001g0037 |
5 | 391 | 0.0128 | -2 | c.-17 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1676 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771267 | AAT | A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02630.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0002c0002t0001g0008 a0002c0002t0001g0037 |
6 | 396 | 0.0152 | -2 | c.-17 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1707 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771327 | TAA | T | upstream_gene_variant | MODIFIER | HG02027.hp2 NA19064.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0038 |
3 | 416 | 0.0072 | -2 | c.-18 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1767 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771367 | TTA | T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01192.hp2 others(33): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 others(4): Show |
36 | 416 | 0.0865 | -2 | c.-18 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1807 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771385 | AAT | A | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01192.hp2 others(31): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 others(4): Show |
34 | 415 | 0.0819 | -2 | c.-18 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1825 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169772316 | CTT | C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG01934.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0042 others(4): Show |
25 | 170 | 0.1471 | -2 | c.-27 others(13): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2756 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51948899 | TAG | T | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA19043.hp2 |
a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0029 a0001c0004t0013g0258 |
3 | 322 | 0.0093 | -2 | c.-28 others(13): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2799 | chr12 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51957441 | CAA | C | intron_variant | MODIFIER | HG02647.hp1 HG02895.hp2 HG02896.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0021a0001c0001t0026others(1): Show | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(7): Show |
10 | 167 | 0.0599 | -2 | c.91+ others(17): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51974508 | CGT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(117): Show |
135 | 320 | 0.4219 | -2 | c.92- others(15): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51991424 | CAG | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01192.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(15): Show |
21 | 322 | 0.0652 | -2 | c.126 others(19): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAA | T | intron_variant | MODIFIER | HG02129.hp1 HG02559.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(3): Show | a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0001g0203 others(8): Show |
12 | 36 | 0.3333 | -2 | c.139 others(19): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157523232 | GAA | G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01169.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0005a0002c0003t0002others(12): Show | a0001c0001t0001g0157 a0001c0002t0005g0033 a0002c0003t0002g0006 others(41): Show |
44 | 87 | 0.5057 | -2 | c.*10 others(15): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3534 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157524074 | CTA | C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0192 a0001c0001t0012g0193 |
2 | 214 | 0.0093 | -2 | c.*98 others(13): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2692 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157535143 | CAA | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01192.hp2 others(41): Show |
a0002 | a0002c0003a0002c0004a0002c0005others(3): Show | a0002c0003t0002a0002c0003t0007a0002c0003t0009others(16): Show | a0002c0003t0002g0010 a0002c0003t0002g0022 a0002c0003t0002g0023 others(41): Show |
44 | 57 | 0.7719 | -2 | c.135 others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157538971 | CAT | C | intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0011a0001c0009t0011 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0009t0011g0159 |
3 | 214 | 0.0140 | -2 | c.122 others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157544202 | ATT | A | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0037a0001c0002t0001others(1): Show | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | 184 | 0.0326 | -2 | c.943 others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157550521 | AAT | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0005 | a0001c0002t0023a0002c0003t0006a0002c0003t0009others(4): Show | a0001c0002t0023g0007 a0002c0003t0006g0078 a0002c0003t0009g0025 others(7): Show |
10 | 214 | 0.0467 | -2 | c.545 others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157555101 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(16): Show | a0001c0001t0001g0196 a0001c0001t0005g0213 a0001c0002t0001g0032 others(35): Show |
39 | 111 | 0.3514 | -2 | c.544 others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157562871 | CAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(19): Show | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(49): Show |
53 | 214 | 0.2477 | -2 | c.305 others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588236 | TAC | T | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG02145.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0008 | a0001c0002t0004a0002c0003t0002a0002c0003t0006others(2): Show | a0001c0002t0004g0122 a0002c0003t0002g0006 a0002c0003t0002g0060 others(3): Show |
6 | 86 | 0.0698 | -2 | c.74- others(15): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | CAT | C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01943.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(13): Show |
16 | 35 | 0.4571 | -2 | c.74- others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588889 | GTA | G | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0008 | a0001c0002t0024a0002c0003t0006a0002c0003t0026others(2): Show | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | 214 | 0.0234 | -2 | c.74- others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157629587 | TAC | T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01168.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(10): Show | a0001c0001t0001g0188 a0001c0001t0001g0211 a0001c0001t0004g0185 others(21): Show |
25 | 67 | 0.3731 | -2 | c.-94 others(11): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 724 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157630594 | CAA | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(12): Show | a0001c0001t0003g0058 a0001c0001t0005g0165 a0001c0002t0001g0116 others(33): Show |
36 | 94 | 0.3830 | -2 | c.-19 others(13): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1731 | chr2 | TogoVar |