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(12): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0297 | 1 | 93 | 0.0108 | 19 | c.422 others(34): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02897.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0244 others(1): Show |
4 | 96 | 0.0417 | 19 | c.422 others(34): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02818.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0002 | a0001c0002t0006g0192 a0001c0003t0002g0294 |
2 | 94 | 0.0213 | 19 | c.422 others(34): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0288 a0001c0001t0009g0289 |
2 | 94 | 0.0213 | 19 | c.422 others(34): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170 | 1 | 93 | 0.0108 | 19 | c.422 others(34): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51975342 | T | TGTAATGT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0038 | 1 | 342 | 0.0029 | 19 | c.69+ others(32): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD14B_chr3_51963515_51979049 | 51975342 | T | TGTAATGT others(12): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 19 | c.-14 others(30): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1294 | chr3 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 28 | 0.0357 | 19 | c.590 others(36): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTTGTGTG others(12): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18941.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0077 a0001c0001t0010g0078 a0001c0001t0010g0079 |
3 | 30 | 0.1000 | 19 | c.590 others(36): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128025266 | T | TAGCTGGG others(12): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 342 | 0.0029 | 19 | c.802 others(36): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128033524 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0003 | a0003c0003t0058 | a0003c0003t0058g0344 | 1 | 172 | 0.0058 | 19 | c.134 others(38): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22602952 | A | AGGAGATA others(12): Show |
intron_variant | MODIFIER | NA18975.hp1 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 2 | 422 | 0.0047 | 19 | c.113 others(34): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58271762 | C | CTGTTTTT others(12): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 300 | 0.0033 | 19 | c.523 others(34): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG02056.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0003g0284 others(13): Show |
16 | 134 | 0.1194 | 19 | c.463 others(36): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 129 | 0.0078 | 19 | c.480 others(36): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100869330 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00735.hp2 others(7): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0004a0005c0016others(4): Show | a0001c0001t0008a0001c0001t0018a0001c0001t0040others(7): Show | a0001c0001t0008g0201 a0001c0001t0018g0047 a0001c0001t0040g0221 others(7): Show |
10 | 30 | 0.3333 | 19 | c.911 others(36): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100878789 | G | GCTGTCTA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0005others(24): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(42): Show | a0001c0001t0002g0038 a0001c0001t0002g0065 a0001c0001t0002g0071 others(78): Show |
81 | 236 | 0.3432 | 19 | c.697 others(36): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 6/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01256.hp1 HG01891.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0056others(3): Show | a0001c0001t0018a0001c0005t0001a0001c0056t0025others(4): Show | a0001c0001t0018g0082 a0001c0005t0001g0058 a0001c0056t0025g0132 others(4): Show |
7 | 54 | 0.1296 | 19 | c.461 others(36): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894952 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0009 | a0009c0021 | a0009c0021t0005 | a0009c0021t0005g0117 | 1 | 234 | 0.0043 | 19 | c.461 others(36): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABI3_chr17_49205707_49228225 | 49225763 | C | CAGGCCAT others(12): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 1 | 444 | 0.0023 | 19 | c.*30 others(30): Show |
ABI3 | ENSG00000108798.9 | transcript | ENST00000225941.6 | protein_coding | 2539 | chr17 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179101996 | C | CTTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0017 | 1 | 34 | 0.0294 | 19 | c.*57 others(30): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 12/12 | 5721 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179178401 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(2): Show | a0001c0001t0002g0034 a0001c0001t0002g0053 a0001c0001t0002g0057 others(9): Show |
12 | 161 | 0.0745 | 19 | c.158 others(38): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114568196 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0146 | 1 | 99 | 0.0101 | 19 | c.673 others(36): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 4/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114580205 | T | TTATATAT others(12): Show |
intron_variant | MODIFIER | NA18973.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022 | a0001c0001t0017g0048 a0001c0001t0022g0047 |
2 | 236 | 0.0085 | 19 | c.380 others(36): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114634129 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02896.hp2 HG03579.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0023a0001c0001t0123a0001c0002t0009others(5): Show | a0001c0001t0023g0005 a0001c0001t0123g0165 a0001c0002t0009g0164 others(5): Show |
8 | 65 | 0.1231 | 19 | c.244 others(38): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114644306 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0018 | a0008c0018t0021 | a0008c0018t0021g0021 | 1 | 79 | 0.0127 | 19 | c.244 others(38): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7980941 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00642.hp1 others(21): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0023 a0001c0001t0001g0081 a0001c0001t0001g0167 others(21): Show |
24 | 107 | 0.2243 | 19 | c.182 others(38): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8120187 | C | CGTGGCAG others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 320 | 0.0031 | 19 | c.11- others(36): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149141360 | A | ACACAAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(172): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 others(171): Show |
175 | 256 | 0.6836 | 19 | c.-38 others(28): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 132 | chr5 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149147069 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 194 | 0.0052 | 19 | c.13+ others(34): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149150862 | T | TCTCTGTG others(12): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 256 | 0.0039 | 19 | c.13+ others(34): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1022106 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02015.hp1 NA18940.hp1 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(1): Show | a0001c0001t0001g0147 a0001c0001t0004g0291 a0001c0001t0021g0273 others(1): Show |
4 | 293 | 0.0137 | 19 | c.179 others(38): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1025119 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0245 | 1 | 101 | 0.0099 | 19 | c.179 others(40): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1079788 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG04204.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0204 a0001c0001t0002g0087 |
2 | 8 | 0.2500 | 19 | c.640 others(34): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | |||||||
ABT1_chr6_26591953_26605739 | 26602651 | G | GGACTCAC others(12): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | 19 | c.*40 others(30): Show |
ABT1 | ENSG00000146109.5 | transcript | ENST00000274849.3 | protein_coding | 1913 | chr6 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34194587 | A | AGTAATGC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0044 others(39): Show |
42 | 244 | 0.1721 | 19 | c.124 others(38): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 3/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34209600 | G | GGAGGGGT others(12): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0160 | 1 | 242 | 0.0041 | 19 | c.884 others(36): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34209692 | G | GGGTGAGG others(12): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0069 | 1 | 244 | 0.0041 | 19 | c.884 others(36): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107389004 | C | CTTTTTAA others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(46): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(31): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0002g0082 others(46): Show |
49 | 186 | 0.2634 | 19 | c.113 others(40): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107626343 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19086.hp2 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0016 | a0003c0004t0001g0040 a0003c0004t0016g0005 |
2 | 35 | 0.0571 | 19 | c.263 others(38): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107650079 | T | TGTCCAGG others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(53): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0011others(14): Show | a0001c0001t0003a0001c0001t0021a0001c0001t0024others(29): Show | a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0029 others(53): Show |
56 | 186 | 0.3011 | 19 | c.299 others(36): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18984.hp2 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0005a0001c0012t0001 | a0001c0004t0005g0040 a0001c0012t0001g0146 |
2 | 84 | 0.0238 | 19 | c.508 others(38): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0119 | 1 | 99 | 0.0101 | 19 | c.507 others(38): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0210 a0001c0001t0025g0230 |
2 | 100 | 0.0200 | 19 | c.507 others(38): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18943.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0294 |
2 | 100 | 0.0200 | 19 | c.507 others(38): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174021 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0001a0001c0004t0005a0001c0006t0005 | a0001c0002t0001g0152 a0001c0004t0005g0118 a0001c0004t0005g0277 others(1): Show |
4 | 277 | 0.0144 | 19 | c.507 others(38): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37181900 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 116 | 0.0086 | 19 | c.477 others(36): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37338973 | G | GAGGGAGG others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(138): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0084 others(138): Show |
141 | 293 | 0.4812 | 19 | c.85+ others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37338973 | G | GAGGGAGG others(12): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(2): Show |
5 | 157 | 0.0318 | 19 | c.85+ others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109206428 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0006 | a0006c0113 | a0006c0113t0004 | a0006c0113t0004g0031 | 1 | 174 | 0.0057 | 19 | c.291 others(36): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |