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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1D_chr1_1275436_1297025 | 1288457 | C | CCGTGTCT others(99): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 290 | 0.0035 | 106 | c.166 others(123): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288549 | C | CCGTGTCT others(99): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0005 | a0005c0016 | a0005c0016t0002 | a0005c0016t0002g0288 | 1 | 290 | 0.0035 | 106 | c.166 others(123): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288549 | C | CGTGTCCC others(99): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0224 | 1 | 290 | 0.0035 | 106 | c.166 others(123): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289035 | C | CCGTGTCT others(99): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0012 | a0012c0062 | a0012c0062t0001 | a0012c0062t0001g0029 | 1 | 290 | 0.0035 | 106 | c.166 others(124): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289073 | C | CCGTGTCT others(99): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0101 | 1 | 290 | 0.0035 | 106 | c.166 others(125): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289263 | C | CCGTGTCT others(99): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 290 | 0.0035 | 106 | c.166 others(125): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289679 | C | CTGCTCCG others(99): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0042 | a0042c0064 | a0042c0064t0001 | a0042c0064t0001g0109 | 1 | 290 | 0.0035 | 106 | c.166 others(123): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289928 | C | CCGTGTCT others(99): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 290 | 0.0035 | 106 | c.166 others(123): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2L1_chr22_21637302_21649299 | 21646678 | T | TGAAAGTC others(99): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0008 | 1 | 430 | 0.0023 | 106 | c.*25 others(117): Show |
SDF2L1 | ENSG00000128228.5 | transcript | ENST00000248958.5 | protein_coding | 2380 | chr22 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77485007 | T | TGATGGTG others(99): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0014 | 1 | 150 | 0.0067 | 106 | c.914 others(123): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77485007 | T | TGATGGTG others(99): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0085 | 1 | 158 | 0.0063 | 106 | c.860 others(123): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169637 | A | ATATAATG others(99): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 366 | 0.0027 | 106 | c.-15 others(117): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1376 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169751 | A | AATATATA others(99): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 366 | 0.0027 | 106 | c.-16 others(117): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1490 | chr6 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2893191 | T | TATATATA others(99): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0295 | 1 | 462 | 0.0022 | 106 | c.567 others(121): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
SFTPD_chr10_79932740_79954105 | 79951044 | T | TGTTTGTA others(99): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0007 | 1 | 424 | 0.0024 | 106 | c.-19 others(117): Show |
SFTPD | ENSG00000133661.17 | transcript | ENST00000372292.8 | protein_coding | 1940 | chr10 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66630904 | A | AAAGAAAG others(99): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 302 | 0.0033 | 106 | c.75- others(121): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50678902 | G | GATGGGAA others(99): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02129.hp1 HG02523.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0009 | a0001c0002t0002g0258 a0001c0002t0003g0056 a0001c0002t0009g0099 others(1): Show |
4 | 316 | 0.0127 | 106 | c.257 others(125): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 458609 | C | CGGGGAGG others(99): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 1 | 212 | 0.0047 | 106 | c.468 others(123): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13015951 | T | TTTCCCTT others(99): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0067 | a0001c0001t0057g0093 a0001c0001t0067g0015 |
2 | 214 | 0.0094 | 106 | c.691 others(125): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13015953 | T | TCCCTTCC others(99): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02647.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0013 | a0001c0001t0004g0041 a0001c0001t0010g0130 a0001c0001t0013g0122 |
3 | 214 | 0.0140 | 106 | c.691 others(125): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9920018 | C | CACTATAA others(99): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02886.hp1 HG03195.hp1 others(1): Show |
a0001a0002a0030 | a0001c0007a0002c0010a0002c0013others(1): Show | a0001c0007t0001a0002c0010t0005a0002c0013t0033others(1): Show | a0001c0007t0001g0130 a0002c0010t0005g0241 a0002c0013t0033g0197 others(1): Show |
4 | 256 | 0.0156 | 106 | c.289 others(127): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608663 | T | TAGCATAG others(99): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0209 | 1 | 218 | 0.0046 | 106 | c.323 others(125): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC10A6_chr4_86818468_86854384 | 86842876 | T | TTCTTTCT others(99): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 350 | 0.0029 | 106 | c.377 others(123): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC22A24_chr11_63074940_63149221 | 63113155 | T | TATATATA others(99): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0011 | a0011c0015 | a0011c0015t0002 | a0011c0015t0002g0012 | 1 | 366 | 0.0027 | 106 | c.830 others(123): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 4/9 | chr11 | TogoVar | |||||||
SLC23A3_chr2_219156465_219175029 | 219159526 | C | CATATATA others(99): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 434 | 0.0023 | 106 | c.*23 others(117): Show |
SLC23A3 | ENSG00000213901.11 | transcript | ENST00000409878.8 | protein_coding | 1938 | chr2 | TogoVar | |||||||
SLC28A1_chr15_84879662_84950798 | 84928543 | T | TTTCTTTC others(99): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0329 | 1 | 396 | 0.0025 | 106 | c.108 others(125): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC2A4RG_chr20_63734776_63749050 | 63747498 | T | TCGGGGGG others(99): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 416 | 0.0024 | 106 | c.*45 others(117): Show |
SLC2A4RG | ENSG00000125520.14 | transcript | ENST00000266077.5 | protein_coding | 3449 | chr20 | TogoVar | |||||||
SLC35F1_chr6_117902264_118322671 | 117923718 | C | CATATACG others(99): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0020 | a0001c0001t0008g0017 a0001c0001t0020g0033 a0001c0001t0020g0034 |
3 | 182 | 0.0165 | 106 | c.173 others(125): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923794 | C | CATATATA others(99): Show |
intron_variant | MODIFIER | HG06807.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0054 | a0001c0001t0025g0157 a0001c0001t0054g0156 |
2 | 182 | 0.0110 | 106 | c.173 others(125): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923794 | C | CATATATA others(99): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0024a0001c0001t0033others(1): Show | a0001c0001t0007g0008 a0001c0001t0024g0110 a0001c0001t0033g0122 others(1): Show |
4 | 182 | 0.0220 | 106 | c.173 others(125): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(99): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 370 | 0.0027 | 106 | c.274 others(123): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203284 | A | AGAGAGAG others(99): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 188 | 0.0053 | 106 | c.*82 others(117): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3889 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203522 | G | GAGGGAGA others(99): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0165 | 1 | 188 | 0.0053 | 106 | c.*80 others(117): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3651 | chr8 | TogoVar | |||||||
SLC47A2_chr17_19673317_19721584 | 19721111 | C | CTGGTTTT others(99): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 366 | 0.0027 | 106 | c.-45 others(117): Show |
SLC47A2 | ENSG00000180638.19 | transcript | ENST00000433844.4 | protein_coding | 4528 | chr17 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200222 | T | TTATATAT others(99): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0172 | a0001c0001t0172g0091 | 1 | 236 | 0.0042 | 106 | c.180 others(127): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLCO1A2_chr12_21259600_21339917 | 21311819 | G | GGGAGGCT others(99): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 310 | 0.0032 | 106 | c.335 others(123): Show |
SLCO1A2 | ENSG00000084453.17 | transcript | ENST00000683939.1 | protein_coding | 4/14 | chr12 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20472250 | A | ATATATCT others(99): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0149 | 1 | 230 | 0.0044 | 106 | c.467 others(123): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168668970 | C | CGTCCCCC others(99): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 HG02109.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0008t0002others(1): Show | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 others(7): Show |
10 | 180 | 0.0556 | 106 | c.*25 others(117): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 979 | chr6 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222117 | C | CTCTGTCT others(99): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0060 | 1 | 190 | 0.0053 | 106 | c.719 others(125): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557555 | T | TCTTCTTC others(99): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0070 | 1 | 322 | 0.0031 | 106 | c.*55 others(117): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3537 | chr14 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827182 | T | TTATAGTT others(99): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0272 | 1 | 302 | 0.0033 | 106 | c.12+ others(121): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23837279 | T | TTATATTT others(99): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0037 a0001c0001t0009g0017 |
2 | 212 | 0.0094 | 106 | c.481 others(123): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23837279 | T | TTATATTT others(99): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0055 | 1 | 212 | 0.0047 | 106 | c.481 others(123): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913914 | T | TAGTGTGT others(99): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 420 | 0.0024 | 106 | c.*32 others(117): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2229 | chr9 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(99): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03195.hp1 HG03516.hp2 |
a0001a0002 | a0001c0024a0002c0007a0002c0008 | a0001c0024t0100a0002c0007t0031a0002c0008t0095 | a0001c0024t0100g0350 a0002c0007t0031g0214 a0002c0008t0095g0155 |
3 | 356 | 0.0084 | 106 | c.-11 others(127): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SREBF1_chr17_17806334_17841986 | 17809578 | C | CGCCCACC others(99): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 352 | 0.0028 | 106 | c.*29 others(117): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1755 | chr17 | TogoVar | |||||||
SRRM3_chr7_76196896_76292287 | 76266232 | A | AATATATA others(99): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0322 | 1 | 324 | 0.0031 | 106 | c.830 others(121): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43817597 | C | CCCCTCTC others(99): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0159 |
2 | 274 | 0.0073 | 106 | c.209 others(123): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43905162 | C | CCTCTCCG others(99): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 274 | 0.0037 | 106 | c.744 others(123): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
STAP2_chr19_4319043_4343827 | 4334809 | T | TCATCCAT others(99): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 388 | 0.0026 | 106 | c.103 others(121): Show |
STAP2 | ENSG00000178078.12 | transcript | ENST00000594605.6 | protein_coding | 1/12 | chr19 | TogoVar |