Table 1 The predicted functions of the 47 validated de novo non-synonymous variants used 7 bioinformatics tool.
Chromosome | Position | R/A | Gene | MaxAF | GeneFuture | SIFT | Polyphen2_HDIV | Polyphen2_HVAR | LRT | MutationTaster | MutationAssessor | FATHMM |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 22021668 | A/G | USP48 | . | missense | T | B;B;B;B | B;B;B;B | N | D | N | T;T |
1 | 39827053 | C/T | MACF1 | . | missense | D | B;B;B;B | B;B;B;B | N | D | L | T;T;T;T;T;T |
1 | 91844691 | C/T | HFM1 | . | missense | D | P;D;D | P;D;P | U | D | M | T;T |
1 | 243319624 | G/A | CEP170 | . | missense | . | . | . | . | D | . | . |
2 | 9650202 | G/A | ADAM17 | 5.00E-04 | missense | T | D;D | D;D | D | D | M | D |
2 | 74758135 | T/G | HTRA2 | . | missense | D | D;D;D;D | D;D;D;D | D | D | M | D;D |
2 | 179635385 | T/C | TTN | . | missense | D | D;D;D;D;D | D;D;D;D;D | . | D | L | T;T;T;T;T |
3 | 43121633 | C/T | GTDC2 | 5.00E-04 | missense | T | D | D | D | D | M | D;D |
3 | 50211303 | G/C | SEMA3F | . | missense | D | P;P | B;B | D | D | L | T;T;T;T;T;T |
3 | 57335855 | C/A | DNAH12 | . | missense | . | . | . | . | N | H | . |
3 | 119462963 | C/T | MAATS1 | 3.83E-04 | missense | D | D;D;D | D;D;D | D | D | M | T |
6 | 132207739 | C/G | ENPP1 | . | missense | D | D | D | D | D | M | D |
7 | 27140937 | A/G | HOXA2 | . | missense | D | D | D | D | D | H | D |
7 | 28547270 | G/T | CREB5 | . | missense | D | D | D | D | D | M | T;T;T;T;T |
7 | 121773654 | C/T | AASS | . | missense | T | P | P | D | D | N | T;T |
7 | 128658136 | T/G | TNPO3 | . | missense | D | D;D;D | D;D;D | D | D | M | T;T;T;T |
7 | 143657109 | G/A | OR2F1 | . | missense | D | D | D | D | N | H | T |
9 | 133952647 | G/A | LAMC3 | . | missense | T | D | P | N | N | L | T |
9 | 139907507 | G/A | ABCA2 | 1.23E-04 | missense | T | B;B | B;B | U | N | N | D;D;D |
9 | 140147394 | C/T | C9orf173 | . | missense | T | B;P;P;B | B;B;B;B | N | N | N | T;T |
10 | 97763961 | A/C | CC2D2B | . | missense | T | . | . | . | D | . | T |
11 | 20119268 | C/T | NAV2 | . | missense | . | P;P;P;D | P;B;P;B | D | D | N | T;T;T;T;T;T;T;T |
11 | 61277216 | C/T | LRRC10B | . | missense | T | B | B | U | N | N | T |
11 | 68370926 | G/C | PPP6R3 | . | missense | T | D;B;P;D;D;D;D;P | D;B;P;P;P;P;D;P | D | D | L | T;T;T;T;T;T;T;T;T;T;T |
11 | 71943335 | G/A | INPPL1 | . | missense | T | D | D | D | D | M | T;T;T |
11 | 73103282 | G/A | RELT | . | missense | D | B | B | N | N | M | T;T |
11 | 130319553 | T/G | ADAMTS15 | . | missense | D | P | P | . | D | L | T |
12 | 21795009 | G/A | LDHB | . | missense | D | P | P | N | D | H | D;D;D |
12 | 57554800 | A/G | LRP1 | . | missense | T | D | D | D | D | M | D |
12 | 111885301 | C/T | SH2B3 | . | missense | D | D;D;D | D;D;D | D | D | M | T;T |
12 | 117187992 | G/A | RNFT2 | . | missense | T | P;P | B;B | D | D | L | T;T |
12 | 122261146 | G/C | SETD1B | . | missense | T | P | B | N | N | N | D;D |
14 | 95590756 | G/A | DICER1 | . | missense | D | D | P | D | D | L | T;T;T;T;T |
14 | 103465975 | C/T | CDC42BPB | . | missense | D | P | P | D | D | L | T |
15 | 45694835 | G/A | SPATA5L1 | . | missense | T | D | P | D | D | M | D |
15 | 49584699 | T/A | GALK2 | . | missense | D | D;D | D;D | D | D | M | D;T;D |
16 | 12798895 | G/A | CPPED1 | . | missense | D | D | D | D | D | M | D |
16 | 89350182 | T/C | ANKRD11 | . | missense | T | B;B | B;B | N | D | L | T;T |
17 | 67302892 | T/C | ABCA5 | . | missense | . | B;P | B;B | D | D | N | D;D |
17 | 80146156 | G/A | CCDC57 | . | missense | T | D;D | D;D | D | D | M | T;T;T |
1 | 152191073 | C/T | HRNR | . | missense | T | B | B | . | N | N | T |
6 | 42074959 | C/T | C6orf132 | . | missense | T | . | . | . | N | N | T |
6 | 46660790 | C/T | TDRD6 | . | missense | T | B;B | B;B | N | N | L | T;T |
11 | 60703710 | CG/C- | TMEM132A | . | frameshift | . | . | . | . | . | . | . |
11 | 64084952 | A/+C | TRMT112 | . | frameshift | . | . | . | . | . | . | . |
12 | 21175888 | A/C | SLCO1B7 | . | missense | T | B;B | B;B | N | N | N | T;T;T |
20 | 3674309 | C/T | SIGLEC1 | 0.009304 | missense | T | B;B | B;B | N | N | N | T;T |