No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 3 | 30648074 | A | G | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | 5'_UTR | rs138010137 | 0.0136 | - | lod=139:497 | - | - | - | het | 1 |
2 | 3 | 30648248 | C | G | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | 5'_UTR | rs2306856 | 0.1697 | - | lod=54:395 | - | - | - | hom | 3 |
3 | 3 | 30648248 | C | G | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | 5'_UTR | rs2306856 | 0.1697 | - | lod=54:395 | - | - | - | het | 26 |
4 | 3 | 30648248 | C | G | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | 5'_UTR | rs2306856 | 0.1697 | - | lod=54:395 | - | - | - | hom | 3 |
5 | 3 | 30648248 | C | G | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | 5'_UTR | rs2306856 | 0.1697 | - | lod=54:395 | - | - | - | het | 26 |
6 | 3 | 30664707 | C | T | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | c.111C>T | p.A37A | syn | rs149757320 | - | T=1/C=8595;T=0/C=4404;T=1/C=12999 | - | - | - | - | het | 4 |
7 | 3 | 30664714 | G | A | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | c.118G>A | p.D40N | non-syn | rs61732532 | 0.0019 | A=27/G=8569;A=1/G=4403;A=28/G=12972 | - | TOLERATED | B | - | het | 6 |
8 | 3 | 30686414 | A | G | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | +7bp 5'_splice_site | rs1155705 | 0.5203 | G=2718/A=5882;G=1464/A=2942;G=4182/A=8824 | - | - | - | - | het | 430 |
9 | 3 | 30686414 | A | G | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | +7bp 5'_splice_site | rs1155705 | 0.5203 | G=2718/A=5882;G=1464/A=2942;G=4182/A=8824 | - | - | - | - | hom | 109 |
10 | 3 | 30686414 | A | G | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | +7bp 5'_splice_site | rs1155705 | 0.5203 | G=2718/A=5882;G=1464/A=2942;G=4182/A=8824 | - | - | - | - | het | 430 |
11 | 3 | 30686414 | A | G | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | +7bp 5'_splice_site | rs1155705 | 0.5203 | G=2718/A=5882;G=1464/A=2942;G=4182/A=8824 | - | - | - | - | hom | 109 |
12 | 3 | 30713126 | T | A | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | -4bp 3'_splice_site | rs11466512 | 0.375 | A=2651/T=5949;A=672/T=3734;A=3323/T=9683 | - | - | - | - | het | 399 |
13 | 3 | 30713126 | T | A | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | -4bp 3'_splice_site | rs11466512 | 0.375 | A=2651/T=5949;A=672/T=3734;A=3323/T=9683 | - | - | - | - | hom | 90 |
14 | 3 | 30713126 | T | A | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | -4bp 3'_splice_site | rs11466512 | 0.375 | A=2651/T=5949;A=672/T=3734;A=3323/T=9683 | - | - | - | - | het | 399 |
15 | 3 | 30713126 | T | A | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | - | - | -4bp 3'_splice_site | rs11466512 | 0.375 | A=2651/T=5949;A=672/T=3734;A=3323/T=9683 | - | - | - | - | hom | 90 |
16 | 3 | 30713300 | C | T | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | c.625C>T | p.L209F | non-syn | NA | - | - | lod=17:272 | DAMAGING | B | - | het | 1 |
17 | 3 | 30713300 | C | T | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | c.700C>T | p.L234F | non-syn | NA | - | - | lod=17:272 | DAMAGING | B | - | het | 1 |
18 | 3 | 30713444 | G | C | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | c.769G>C | p.E257Q | non-syn | NA | - | - | lod=222:547 | TOLERATED | B | - | het | 2 |
19 | 3 | 30713444 | G | C | ENST00000359013 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000351905 | TGFBR2 | 1 | TGFR2_HUMAN | c.844G>C | p.E282Q | non-syn | NA | - | - | lod=222:547 | TOLERATED | B | - | het | 2 |
20 | 3 | 30713659 | C | T | ENST00000295754 | ENSG00000163513 | 30647994 | 30735634 | ENSP00000295754 | TGFBR2 | 1 | TGFR2_HUMAN | c.984C>T | p.H328H | syn | rs193922666 | - | - | lod=136:494 | - | - | - | het | 3 |