Table 2. Sanger-validated somatic mutations of CSMD1 in colorectal tumors.
Patient | Chr | Position | Reference | Variants | Counts | Coverage | Frequencies | CDS | AA Change | Conservation score |
517 | 8 | 2813254 | G | G/A | 696/327 | 1090 | 63.9/30.0 | 9851C>T | Ala3284Val | 0.666 |
517 | 8 | 2823344 | C | C/T | 941/357 | 1425 | 66.0/25.1 | 9233G>A | Arg3078His | 0.221 |
517 | 8 | 2824162 | C | C/A | 454/172 | 686 | 66.2/25.1 | 9030G>T | Lys3010Asn | 0.932 |
517 | 8 | 3141735 | T | T/C | 828/331 | 1159 | 71.4/28.6 | 4084A>G | Asn1362Asp | 1 |
517 | 8 | 3141850 | G | G/A | 721/393 | 1159 | 62.2/33.9 | 3969C>T | 0.934 | |
517 | 8 | 3216691 | G | G/C | 638/486 | 1161 | 55.0/41.9 | 3287C>G | Pro1096Arg | 1 |
517 | 8 | 3265577 | C | C/T | 127/58 | 187 | 67.9/31.0 | 1915G>A | Ala639Thr | 0.073 |
517 | 8 | 3265665 | G | G/T | 71/29 | 101 | 70.3/28.7 | 1827C>A | Asn609Lys | 1 |
517 | 8 | 3889468 | C | C/T | 594/187 | 856 | 69.4/21.8 | 569G>A | Gly190Glu | 0.983 |
517 | 8 | 4851922 | C | C/A | 31/28 | 61 | 50.8/45.9 | 17G>T | Arg6Ile | 0.296 |
529 | 8 | 2967782 | A | A/G | 157/69 | 226 | 69.5/30.5 | 6506T>C | Leu2169Pro | 0.906 |
587 | 8 | 3165911 | G | G/T | 510/192 | 703 | 72.5/27.3 | 3746C>A | Ala1249Asp | 1 |
40395 | 8 | 3046419 | G | G/A | 76/38 | 118 | 64.4/32.2 | 5513C>T | Ser1838Leu | 0.866 |
40415 | 8 | 2944669 | C | C/T | 165/54 | 227 | 72.7/23.8 | 7424G>A | Arg2475Gln | 0.282 |
40415 | 8 | 3265619 | T | T/G | 57/30 | 89 | 64.0/33.7 | 1873A>C | Ile625Leu | 0.998 |
40530 | 8 | 3267040 | G | G/A | 196/189 | 385 | 50.9/49.1 | 1649C>T | Thr550Ile | 0.984 |