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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03225.hp1 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0243 a0001c0003t0002g0247 a0001c0003t0002g0250 |
3 | 95 | 0.0316 | 15 | c.422 others(30): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0292 | 1 | 93 | 0.0108 | 15 | c.422 others(30): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 2 | 49 | 0.0408 | 15 | c.*87 others(24): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1872755 | G | GGCTACTT others(8): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 414 | 0.0024 | 15 | c.*44 others(26): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 4054 | chr19 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80695065 | T | TGGCGGCG others(8): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0008g0174 others(2): Show |
5 | 209 | 0.0239 | 15 | c.-36 others(24): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 244 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 28 | 0.0357 | 15 | c.590 others(32): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80726501 | G | GTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 a0001c0001t0001g0305 |
2 | 70 | 0.0286 | 15 | c.591 others(34): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80726501 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 a0001c0001t0001g0306 |
2 | 70 | 0.0286 | 15 | c.591 others(34): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128033524 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0291 | 1 | 172 | 0.0058 | 15 | c.134 others(34): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700827 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0116 |
3 | 98 | 0.0306 | 15 | c.509 others(32): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203392275 | T | TCACCACC others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01074.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 others(45): Show |
48 | 87 | 0.5517 | 15 | c.578 others(32): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203408833 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0319 | 1 | 133 | 0.0075 | 15 | c.119 others(34): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100869330 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0002g0038 a0001c0001t0002g0083 a0001c0001t0006g0227 others(12): Show |
15 | 35 | 0.4286 | 15 | c.911 others(32): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0079 | 1 | 48 | 0.0208 | 15 | c.461 others(32): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179176702 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02080.hp1 HG02602.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0210 a0001c0001t0001g0242 a0001c0001t0001g0247 others(7): Show |
10 | 35 | 0.2857 | 15 | c.158 others(34): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179178401 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01081.hp1 others(18): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0015 | a0001c0001t0004a0001c0001t0014a0001c0001t0016others(5): Show | a0001c0001t0004g0279 a0001c0001t0004g0283 a0001c0001t0004g0285 others(18): Show |
21 | 170 | 0.1235 | 15 | c.158 others(34): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114448604 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 NA19043.hp1 |
a0002 | a0002c0005a0002c0009 | a0002c0005t0045a0002c0005t0092a0002c0009t0090 | a0002c0005t0045g0060 a0002c0005t0092g0156 a0002c0009t0090g0010 |
3 | 177 | 0.0169 | 15 | c.159 others(32): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114476646 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01099.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0027others(9): Show | a0001c0001t0001g0244 a0001c0001t0007g0080 a0001c0001t0027g0129 others(12): Show |
15 | 33 | 0.4545 | 15 | c.104 others(34): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 8/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114500731 | A | AGGAAGGG others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00733.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0059a0001c0001t0093a0001c0001t0156others(10): Show | a0001c0001t0059g0116 a0001c0001t0093g0146 a0001c0001t0156g0110 others(11): Show |
14 | 106 | 0.1321 | 15 | c.895 others(32): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114500771 | G | GGGAAGGG others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0089a0001c0002t0158 | a0001c0001t0089g0118 a0001c0002t0158g0014 |
2 | 239 | 0.0084 | 15 | c.895 others(32): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114580205 | T | TTATATAT others(8): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0005 a0001c0001t0023g0007 |
2 | 236 | 0.0085 | 15 | c.380 others(32): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114584135 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01433.hp1 HG02055.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0004g0136 others(4): Show |
7 | 211 | 0.0332 | 15 | c.380 others(32): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114634129 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18995.hp2 NA19090.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0064a0001c0002t0060a0001c0003t0002 | a0001c0001t0064g0037 a0001c0002t0060g0050 a0001c0003t0002g0040 |
3 | 60 | 0.0500 | 15 | c.244 others(34): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114644280 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0118 | 1 | 192 | 0.0052 | 15 | c.244 others(34): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114644306 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0120 | 1 | 79 | 0.0127 | 15 | c.244 others(34): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114644306 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0023 | a0003c0023t0012 | a0003c0023t0012g0134 | 1 | 79 | 0.0127 | 15 | c.244 others(34): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7980941 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028 | 1 | 84 | 0.0119 | 15 | c.182 others(34): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8056112 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 18 | 0.0556 | 15 | c.764 others(32): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 7/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149170228 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039 | 1 | 71 | 0.0141 | 15 | c.14- others(32): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149225231 | A | ACCTCTAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0053 others(70): Show |
74 | 256 | 0.2891 | 15 | c.758 others(32): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | chr5 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1022106 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0118 | 1 | 290 | 0.0034 | 15 | c.179 others(34): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1022120 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01175.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0002g0151 a0001c0001t0002g0224 a0001c0001t0004g0256 others(20): Show |
23 | 194 | 0.1186 | 15 | c.179 others(34): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1022120 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0012 | a0001c0002t0001g0109 a0001c0002t0012g0245 |
2 | 173 | 0.0116 | 15 | c.179 others(34): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34182497 | T | TGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG02004.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0003a0006c0011t0001 | a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0102 others(2): Show |
5 | 172 | 0.0291 | 15 | c.124 others(34): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 3/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34325950 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01192.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0059 a0001c0001t0001g0060 others(9): Show |
12 | 87 | 0.1379 | 15 | c.883 others(34): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107481928 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18522.hp2 |
a0003a0015 | a0003c0004a0015c0023 | a0003c0004t0002a0015c0023t0006 | a0003c0004t0002g0076 a0015c0023t0006g0099 |
2 | 181 | 0.0110 | 15 | c.113 others(36): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107525324 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0040 | 1 | 73 | 0.0137 | 15 | c.128 others(34): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107542311 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01433.hp2 others(15): Show |
a0003a0005a0008others(1): Show | a0003c0004a0003c0006a0005c0007others(3): Show | a0003c0004t0003a0003c0004t0004a0003c0006t0002others(8): Show | a0003c0004t0003g0017 a0003c0004t0003g0038 a0003c0004t0004g0002 others(15): Show |
18 | 108 | 0.1667 | 15 | c.128 others(34): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107608893 | T | TAAATAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01361.hp1 HG03017.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0015a0003c0004others(2): Show | a0001c0003t0002a0002c0015t0001a0003c0004t0003others(2): Show | a0001c0003t0002g0138 a0002c0015t0001g0043 a0003c0004t0003g0035 others(3): Show |
6 | 127 | 0.0472 | 15 | c.164 others(34): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49803239 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19080.hp2 NA19086.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0097 a0001c0001t0002g0051 a0001c0001t0008g0232 others(1): Show |
4 | 71 | 0.0563 | 15 | c.17- others(28): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37099440 | T | TGGAGGGC others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 a0001c0002t0001g0151 |
2 | 298 | 0.0067 | 15 | c.656 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37099470 | T | TGGAGGGC others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0269 | 1 | 298 | 0.0034 | 15 | c.656 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37099514 | C | CAGGAGGG others(8): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0241 | 1 | 292 | 0.0034 | 15 | c.656 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37099590 | A | AGGAGGGC others(8): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 a0001c0001t0003g0183 |
2 | 285 | 0.0070 | 15 | c.656 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37112073 | T | TCTATCTA others(8): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 | 1 | 298 | 0.0034 | 15 | c.645 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 51/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0144 a0001c0003t0001g0059 |
2 | 84 | 0.0238 | 15 | c.508 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 99 | 0.0101 | 15 | c.507 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19057.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0203 a0001c0001t0001g0216 |
3 | 101 | 0.0297 | 15 | c.507 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 99 | 0.0101 | 15 | c.507 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174021 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 274 | 0.0036 | 15 | c.507 others(34): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar |