Table 1.
Chrom | Base | REF | ALT | Gene symbol | Ensembl Protein ID | Variant | Samples involved (n) | |
---|---|---|---|---|---|---|---|---|
Paired | Unpaired | |||||||
chr3 | 49412973 | C | A | RHOA | ENSP00000400175 | G17V | 4 | 1 |
chr8 | 72756068 | C | T | MSC | ENSP00000321445 | E116K | 3 | 1 |
chr19 | 50265271 | G | A | TSKS | ENSP00000246801 | T130M | 1 | 1 |
chr15 | 81271632 | CT | C | MESDC2 | ENSP00000261758 | FS | 1 | 1 |
chr15 | 79750585 | TA | T | KIAA1024 | ENSP00000307461 | FS | 1 | 1 |
chr14 | 60903564 | CA | C | C14orf39 | ENSP00000324920 | FS | 1 | 1 |
chr12 | 4719361 | GA | G | DYRK4 | ENSP00000437534 | FS | 1 | 1 |
chr8 | 124384892 | CT | C | ATAD2 | ENSP00000287394 | FS | 1 | 1 |
chr6 | 4995423 | AT | A | RPP40 | ENSP00000369391 | FS | 1 | 1 |
chr5 | 79970914 | CA | C | MSH3 | ENSP00000265081 | FS | 1 | 1 |
chr2 | 99439493 | CG | C | C2orf55 | ENSP00000380996 | FS | 1 | 1 |
chr9 | 140005175 | GATG | G | DPP7 | ENSP00000360635 | I469DEL | 0 | 4 |
chr19 | 12903430 | C | T | JUNB | ENSP00000303315 | A282V | 0 | 3 |
chr17 | 40474482 | T | A | STAT3 | ENSP00000264657 | Y640F | 0 | 3 |
chr4 | 155160429 | A | C | DCHS2 | ENSP00000349768 | V2007G | 0 | 3 |
chr21 | 40559143 | C | T | BRWD1 | ENSP00000330753 | V2258I | 0 | 2 |
chr19 | 50393385 | A | C | IL4I1 | ENSP00000342557 | L438V | 0 | 2 |
chr19 | 37880774 | C | T | ZNF527 | ENSP00000348501 | T608M | 0 | 2 |
chr17 | 73619886 | A | G | MYO15B | ENSP00000293201 | D94G | 0 | 2 |
chr17 | 25974411 | C | T | LGALS9 | ENSP00000378856 | R292* | 0 | 2 |
chr15 | 22940793 | G | A | CYFIP1 | ENSP00000390623 | R353H | 0 | 2 |
chr11 | 17388825 | C | T | RP1-239B22.1 | ENSP00000341637 | R231W | 0 | 2 |
chr8 | 65711086 | G | A | CYP7B1 | ENSP00000310721 | P20L | 0 | 2 |
chr3 | 101568755 | C | A | NFKBIZ | ENSP00000325663 | Q95K | 0 | 2 |
ALT, alternative sequence (variant); Chrom, chromosome; FS, frame shift; REF, reference sequence.
Stop codon.