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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSS3_chr12_81073079_81266210 | 81181253 | ACTAAGGC others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(82): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(10): Show | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0055 others(82): Show |
85 | 288 | 0.2951 | -9 | c.125 others(28): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73903939 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0008g0042 a0001c0001t0008g0070 a0001c0002t0002g0045 others(15): Show |
19 | 324 | 0.0586 | -9 | c.255 others(26): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG02055.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0079 a0001c0001t0001g0083 others(10): Show |
21 | 58 | 0.3621 | -9 | c.369 others(26): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100654432 | CATAATAA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0048 others(2): Show |
8 | 86 | 0.0930 | -9 | c.369 others(24): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01243.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0066 others(14): Show |
17 | 64 | 0.2656 | -9 | c.-25 others(28): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17805371 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01070.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0052 others(38): Show |
42 | 230 | 0.1826 | -9 | c.-24 others(28): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17805377 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01243.hp2 HG01255.hp1 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0124 a0001c0001t0001g0156 a0001c0001t0001g0230 others(57): Show |
60 | 301 | 0.1993 | -9 | c.-24 others(28): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17824110 | CAGCAGCA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02559.hp1 HG03453.hp1 others(6): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0121 others(6): Show |
9 | 364 | 0.0247 | -9 | c.348 others(24): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68927153 | TAGATAGG others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0205 others(7): Show |
10 | 282 | 0.0355 | -9 | c.106 others(26): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950294 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(99): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(12): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 others(98): Show |
102 | 120 | 0.8500 | -9 | c.106 others(28): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236721015 | GTTTTTTG others(2): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG03654.hp1 NA19010.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0001c0021a0002c0005others(1): Show | a0001c0001t0004a0001c0021t0001a0002c0005t0004others(1): Show | a0001c0001t0004g0298 a0001c0021t0001g0254 a0002c0005t0004g0259 others(3): Show |
6 | 137 | 0.0438 | -9 | c.448 others(24): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236765120 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01169.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0005a0001c0001t0012a0001c0003t0020others(2): Show | a0001c0001t0005g0056 a0001c0001t0005g0081 a0001c0001t0012g0020 others(6): Show |
9 | 127 | 0.0709 | -9 | c.*25 others(20): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 490 | chr1 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673651 | ATATTTAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(80): Show |
a0001a0004 | a0001c0002a0004c0019 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(6): Show | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 others(80): Show |
83 | 260 | 0.3192 | -9 | c.162 others(28): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38728410 | GCTCCTCC others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02015.hp1 HG02040.hp2 others(36): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0011a0001c0001t0014others(9): Show | a0001c0001t0003g0221 a0001c0001t0003g0254 a0001c0001t0003g0255 others(36): Show |
39 | 217 | 0.1797 | -9 | c.241 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38736008 | AGGTCTCG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(78): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0087 a0001c0001t0001g0170 a0001c0001t0001g0205 others(77): Show |
81 | 182 | 0.4451 | -9 | c.*65 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4420 | chr19 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01257.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0183 a0001c0001t0002g0025 a0001c0001t0002g0026 others(24): Show |
27 | 44 | 0.6136 | -9 | c.337 others(26): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152813865 | CTTTTCTC others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01361.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0294 a0001c0001t0002g0003 a0001c0001t0002g0009 others(10): Show |
14 | 308 | 0.0455 | -9 | c.337 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150296021 | GACAGAGA others(2): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03225.hp2 HG03453.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001a0004c0005t0002 | a0001c0001t0001g0121 a0004c0005t0001g0138 a0004c0005t0002g0111 others(1): Show |
4 | 292 | 0.0137 | -9 | c.-51 others(24): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113910254 | CAGAGTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02258.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0024others(2): Show | a0001c0001t0007g0207 a0001c0001t0007g0208 a0001c0001t0007g0209 others(16): Show |
19 | 388 | 0.0490 | -9 | c.45- others(24): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR8_chr3_53862066_53887152 | 53866654 | TATATTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(192): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(44): Show |
195 | 430 | 0.4535 | -9 | c.*20 others(20): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 411 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02647.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0004g0119 others(7): Show |
10 | 34 | 0.2941 | -9 | c.139 others(26): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157734303 | CCTGAGGC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(7): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(47): Show |
50 | 172 | 0.2907 | -9 | c.*32 others(20): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2142 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157795419 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02165.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 a0001c0001t0002g0118 |
2 | 171 | 0.0117 | -9 | c.67+ others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157851894 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01074.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0106 others(48): Show |
51 | 172 | 0.2965 | -9 | c.-18 others(30): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157852498 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0002t0010others(2): Show | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(4): Show |
7 | 148 | 0.0473 | -9 | c.-18 others(30): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2B_chr3_38448890_38498142 | 38460233 | ACCCCCTT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01070.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0027a0001c0001t0028others(23): Show | a0001c0001t0010g0002 a0001c0001t0010g0033 a0001c0001t0027g0002 others(28): Show |
40 | 407 | 0.0983 | -9 | c.52+ others(24): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67640137 | AGCAGGAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03130.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0018 a0002c0005t0002g0040 |
4 | 394 | 0.0102 | -9 | c.*25 others(20): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 2417 | chr11 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53973905 | ATATTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01257.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005 | a0001c0001t0001g0124 a0001c0002t0002g0099 a0001c0002t0002g0100 others(2): Show |
5 | 261 | 0.0192 | -9 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54142017 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(42): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0001g0137 others(42): Show |
45 | 239 | 0.1883 | -9 | c.404 others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54202706 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02622.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0002 | a0001c0001t0001g0145 a0001c0001t0001g0210 a0001c0001t0001g0223 others(3): Show |
6 | 25 | 0.2400 | -9 | c.404 others(28): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02071.hp2 HG03540.hp2 NA19058.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0035 a0001c0001t0001g0137 a0001c0001t0001g0157 others(3): Show |
6 | 10 | 0.6000 | -9 | c.-91 others(18): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01167.hp1 others(19): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0007a0001c0001t0011a0001c0001t0036others(5): Show | a0001c0001t0007g0293 a0001c0001t0007g0302 a0001c0001t0007g0304 others(19): Show |
22 | 26 | 0.8462 | -9 | c.*43 others(20): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4389 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113688 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00673.hp2 others(12): Show |
a0001a0002a0009 | a0001c0002a0001c0008a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(8): Show | a0001c0002t0001g0147 a0001c0002t0002g0022 a0001c0002t0009g0135 others(12): Show |
15 | 199 | 0.0754 | -9 | c.604 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126121131 | CTATATAC others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01934.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0010others(10): Show | a0001c0003t0004a0001c0004t0001a0001c0004t0002others(12): Show | a0001c0003t0004g0225 a0001c0003t0004g0234 a0001c0004t0001g0237 others(15): Show |
18 | 81 | 0.2222 | -9 | c.417 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126174008 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0004a0001c0021a0002c0015 | a0001c0004t0020a0001c0021t0017a0002c0015t0009 | a0001c0004t0020g0017 a0001c0004t0020g0195 a0001c0021t0017g0109 others(2): Show |
5 | 122 | 0.0410 | -9 | c.261 others(28): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126190989 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(49): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0004others(18): Show | a0001c0002t0001a0001c0002t0015a0001c0002t0033others(35): Show | a0001c0002t0001g0038 a0001c0002t0001g0082 a0001c0002t0001g0084 others(49): Show |
52 | 106 | 0.4906 | -9 | c.261 others(28): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157576239 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01069.hp1 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0003g0073 others(20): Show |
23 | 41 | 0.5610 | -9 | c.-55 others(18): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 465 | chr5 | TogoVar | |||||||
ADAM20_chr14_70517358_70540004 | 70536465 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01243.hp2 HG01433.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0018 others(5): Show |
21 | 56 | 0.3750 | -9 | c.-18 others(20): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 1462 | chr14 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39160539 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(59): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0127 a0001c0002t0001g0146 a0001c0002t0001g0162 others(58): Show |
62 | 64 | 0.9688 | -9 | c.526 others(24): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMDEC1_chr8_24379285_24411013 | 24406285 | GTTACCTA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02965.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0130 |
3 | 402 | 0.0075 | -9 | c.*98 others(18): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 273 | chr8 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33860074 | TGAAAATT others(2): Show |
T | intron_variant | MODIFIER | HG02280.hp1 NA20129.hp2 |
a0001a0004 | a0001c0050a0004c0049 | a0001c0050t0005a0004c0049t0014 | a0001c0050t0005g0202 a0004c0049t0014g0190 |
2 | 222 | 0.0090 | -9 | c.489 others(28): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133436363 | GCAGTGTG others(2): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp1 others(74): Show |
a0002a0013 | a0002c0002a0002c0006a0002c0037others(5): Show | a0002c0002t0001a0002c0006t0001a0002c0037t0001others(5): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 others(64): Show |
77 | 362 | 0.2127 | -9 | c.130 others(26): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70672682 | AGGCGGCA others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(52): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0005a0001c0007others(23): Show | a0001c0002t0007a0001c0005t0026a0001c0007t0037others(31): Show | a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0055 others(52): Show |
55 | 352 | 0.1563 | -9 | c.-11 others(18): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1/22 | 103 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5212195 | TTTTGTTT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00673.hp2 others(32): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0023a0002c0005others(13): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(24): Show | a0001c0001t0004g0036 a0001c0001t0005g0032 a0001c0001t0007g0033 others(32): Show |
35 | 330 | 0.1061 | -9 | c.160 others(28): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977387 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG04199.hp1 |
a0002a0006 | a0002c0001a0006c0048 | a0002c0001t0007a0006c0048t0015 | a0002c0001t0007g0094 a0006c0048t0015g0210 |
2 | 222 | 0.0090 | -9 | c.295 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977390 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 NA19009.hp1 others(1): Show |
a0003a0004a0007others(1): Show | a0003c0006a0004c0008a0007c0060others(1): Show | a0003c0006t0003a0004c0008t0001a0007c0060t0003others(1): Show | a0003c0006t0003g0027 a0004c0008t0001g0100 a0007c0060t0003g0009 others(1): Show |
4 | 222 | 0.0180 | -9 | c.295 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977391 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03834.hp2 NA19058.hp2 |
a0003a0004 | a0003c0006a0004c0003 | a0003c0006t0003a0004c0003t0001 | a0003c0006t0003g0014 a0004c0003t0001g0068 |
2 | 223 | 0.0090 | -9 | c.295 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100077283 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02451.hp2 others(2): Show |
a0001a0003a0004 | a0001c0046a0003c0006a0003c0012others(1): Show | a0001c0046t0004a0003c0006t0021a0003c0012t0001others(1): Show | a0001c0046t0004g0209 a0003c0006t0021g0088 a0003c0006t0021g0089 others(2): Show |
5 | 14 | 0.3571 | -9 | c.213 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77375890 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(58): Show |
a0002a0004a0005others(9): Show | a0002c0007a0002c0055a0002c0057others(14): Show | a0002c0007t0003a0002c0007t0005a0002c0007t0012others(29): Show | a0002c0007t0003g0069 a0002c0007t0003g0165 a0002c0007t0003g0218 others(58): Show |
61 | 89 | 0.6854 | -9 | c.496 others(26): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77400472 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01934.hp1 others(1): Show |
a0005a0006a0030 | a0005c0004a0006c0005a0030c0056 | a0005c0004t0001a0006c0005t0004a0030c0056t0052 | a0005c0004t0001g0273 a0005c0004t0001g0274 a0006c0005t0004g0248 others(1): Show |
4 | 324 | 0.0123 | -9 | c.495 others(28): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar |