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 | 113942470 | GTTT | G | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 others(1): Show |
4 | 388 | 0.0103 | -3 | c.858 others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR5_chr20_38743460_38777520 | 38752566 | GAGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(109): Show |
a0002a0008a0010 | a0002c0002a0008c0011a0010c0012 | a0002c0002t0001a0002c0002t0002a0008c0011t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 others(35): Show |
112 | 364 | 0.3077 | -3 | c.775 others(18): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACTR5_chr20_38743460_38777520 | 38776912 | TGTG | T | downstream_gene_variant | MODIFIER | HG01361.hp1 HG01433.hp2 HG01515.hp2 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0022 others(11): Show |
25 | 278 | 0.0899 | -3 | c.*50 others(14): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4393 | chr20 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100209255 | AGGT | A | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0035 |
6 | 240 | 0.0250 | -3 | c.380 others(18): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100221514 | CTTA | C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 others(6): Show |
14 | 240 | 0.0583 | -3 | c.106 others(22): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100228606 | GAAA | G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0134 a0001c0001t0001g0136 others(14): Show |
22 | 129 | 0.1705 | -3 | c.*46 others(14): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 4183 | chr12 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53863821 | ATTT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00639.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(16): Show |
69 | 107 | 0.6449 | -3 | c.*48 others(14): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3244 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53879486 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0088 others(4): Show |
38 | 430 | 0.0884 | -3 | c.294 others(18): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 2/12 | chr3 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016517 | AGGG | A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01168.hp2 others(55): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(6): Show |
58 | 363 | 0.1598 | -3 | c.-51 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4949 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016531 | AAAG | A | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02451.hp2 HG03098.hp1 others(5): Show |
a0001a0005 | a0001c0007a0005c0006 | a0001c0007t0001a0005c0006t0001 | a0001c0007t0001g0000 a0005c0006t0001g0000 |
8 | 361 | 0.0222 | -3 | c.-51 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4935 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3017570 | AAGG | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(5): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 others(5): Show |
85 | 364 | 0.2335 | -3 | c.-41 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 3896 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3021843 | CAGA | C | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(56): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0005 | a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 |
59 | 364 | 0.1621 | -3 | c.163 others(10): Show |
p.Lys others(5): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1/1 | 383/1437 | 163/1134 | 55/377 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTRT3_chr3_169761921_169774561 | 169771302 | TATA | T | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01433.hp1 HG01884.hp2 others(24): Show |
a0001a0008a0009 | a0001c0001a0008c0009a0009c0007 | a0001c0001t0001a0001c0001t0002a0008c0009t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0042 others(3): Show |
27 | 416 | 0.0649 | -3 | c.-17 others(14): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1742 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169772316 | CTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01167.hp2 HG01243.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0022 others(8): Show |
23 | 168 | 0.1369 | -3 | c.-27 others(14): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2756 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51951713 | TGCG | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(269): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(236): Show |
272 | 321 | 0.8474 | -3 | c.-11 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/9 | 9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 51961373 | ATGT | A | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 |
3 | 322 | 0.0093 | -3 | c.91+ others(18): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51992876 | CTAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | 322 | 0.0093 | -3 | c.139 others(20): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAA | T | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01081.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0183 a0001c0001t0001g0205 others(13): Show |
17 | 41 | 0.4146 | -3 | c.139 others(20): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51994344 | TGGA | T | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0141 a0001c0001t0011g0147 a0001c0001t0011g0148 |
3 | 322 | 0.0093 | -3 | c.*23 others(12): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 52000221 | TGTG | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01358.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 |
3 | 322 | 0.0093 | -3 | c.*61 others(14): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3144 | chr12 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157555101 | CTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02683.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0005a0002c0003t0002others(4): Show | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0005g0033 others(10): Show |
13 | 85 | 0.1529 | -3 | c.544 others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157556657 | CTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(36): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(8): Show | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(36): Show |
39 | 144 | 0.2708 | -3 | c.305 others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157583790 | TAGA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(3): Show | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0110 others(5): Show |
8 | 214 | 0.0374 | -3 | c.304 others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157599314 | CAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0024others(2): Show | a0001c0001t0003g0058 a0001c0002t0001g0112 a0001c0002t0024g0108 others(2): Show |
5 | 43 | 0.1163 | -3 | c.74- others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157616918 | CAGA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(31): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(31): Show |
34 | 214 | 0.1589 | -3 | c.73+ others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157632857 | CTTT | C | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG01884.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0014others(3): Show | a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0211 others(7): Show |
10 | 70 | 0.1429 | -3 | c.-42 others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3994 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157816603 | GTAA | G | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG01891.hp2 others(40): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(14): Show | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0098 others(40): Show |
43 | 171 | 0.2515 | -3 | c.-8+ others(18): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157830733 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 others(2): Show |
5 | 43 | 0.1163 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157843469 | CATA | C | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0056 others(9): Show |
12 | 172 | 0.0698 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157851855 | AAAC | A | intron_variant | MODIFIER | HG02074.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115 a0001c0001t0002g0050 |
2 | 169 | 0.0118 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157851900 | CACA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0041 a0001c0001t0001g0079 a0001c0001t0001g0127 others(17): Show |
20 | 172 | 0.1163 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157854931 | CAGG | C | intron_variant | MODIFIER | HG01261.hp2 HG02451.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0009a0001c0004t0021 | a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0004t0009g0083 others(3): Show |
6 | 172 | 0.0349 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855269 | AGTG | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(2): Show | a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0036 others(5): Show |
8 | 91 | 0.0879 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTTT | C | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp1 HG01978.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0056 a0001c0001t0001g0114 a0001c0001t0001g0116 others(13): Show |
16 | 23 | 0.6957 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863336 | CTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG01169.hp2 HG02040.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0108 others(33): Show |
36 | 47 | 0.7660 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147895904 | CCTT | C | intron_variant | MODIFIER | HG00408.hp1 NA18959.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0004 | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0123 others(2): Show |
5 | 336 | 0.0149 | -3 | c.56- others(16): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147913822 | CAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG01169.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0260 a0001c0001t0002g0163 a0001c0001t0002g0246 others(11): Show |
14 | 30 | 0.4667 | -3 | c.529 others(20): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147916864 | AAAG | A | intron_variant | MODIFIER | HG00408.hp1 NA18959.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0004 | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0123 others(2): Show |
5 | 336 | 0.0149 | -3 | c.673 others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38456485 | TTAA | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0065a0001c0001t0066others(1): Show | a0001c0001t0064g0017 a0001c0001t0065g0017 a0001c0001t0066g0017 others(1): Show |
4 | 408 | 0.0098 | -3 | c.52+ others(18): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38485666 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(99): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(24): Show | a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0023 others(57): Show |
102 | 214 | 0.4766 | -3 | c.*23 others(14): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2359 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38497604 | CTTT | C | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01071.hp1 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0015a0001c0001t0027others(23): Show | a0001c0001t0010g0002 a0001c0001t0010g0033 a0001c0001t0015g0004 others(28): Show |
41 | 164 | 0.2500 | -3 | c.*14 others(16): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 4463 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51981894 | CAAA | C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0033 |
8 | 51 | 0.1569 | -3 | c.-17 others(14): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67637738 | TTTA | T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01099.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0021 others(8): Show |
19 | 394 | 0.0482 | -3 | c.*49 others(14): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4816 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67651554 | GGAC | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01070.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0004a0001c0001t0007a0002c0002t0003others(2): Show | a0001c0001t0004g0010 a0001c0001t0004g0017 a0001c0001t0007g0048 others(8): Show |
36 | 394 | 0.0914 | -3 | c.-10 others(14): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 825 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67652014 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(102): Show |
310 | 319 | 0.9718 | -3 | c.-15 others(14): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1285 | chr11 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75055079 | CTTT | C | intron_variant | MODIFIER | HG00673.hp2 HG01256.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0002g0001 others(1): Show |
10 | 19 | 0.5263 | -3 | c.85- others(18): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75062101 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(153): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0070 others(18): Show |
156 | 170 | 0.9176 | -3 | c.84+ others(18): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75062659 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(109): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(18): Show |
112 | 253 | 0.4427 | -3 | c.84+ others(16): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53974906 | AAGG | A | intron_variant | MODIFIER | HG01081.hp1 HG02683.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 a0001c0002t0002g0099 |
2 | 270 | 0.0074 | -3 | c.62+ others(18): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53997551 | TCTC | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0001t0004g0126 a0001c0002t0002g0007 a0001c0002t0002g0009 others(73): Show |
76 | 270 | 0.2815 | -3 | c.62+ others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |