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. 2012 Dec 12;2012:809370. doi: 10.5402/2012/809370

Table 4.

Coding mutations in the HPV-negative tumor.

Chr Position Reference allele Tumor allele Zygosity dbSNP ID Region Type Gene Transcript name Exon CDS position Protein change Stansky* Agrawal**
2 73679256 C G Homo Exonic Nonsynonymous ALMS1 NM_015120 8 c.C5599G p.L1867V Yes
10 37451586 G A Hetero rs12766884 Exonic Nonsynonymous ANKRD30A NM_052997 16 c.G1742A p.G581E Yes
9 33385733 C T Hetero Exonic Nonsynonymous AQP7 NM_001170 7 c.G657A p.M219I
17 42271663 G C Homo Exonic Nonsynonymous ATXN7L3 NM_001098833 12 c.C1012G p.P338A
6 136599913 A T Hetero Exonic Nonsynonymous BCLAF1 NM_001077441 4 c.T106A p.S36T
1 26646726 A G Hetero rs1071849 Exonic Nonsynonymous CD52 NM_001803 2 c.A119G p.N40S
1 26646730 A G Homo rs17645 Exonic Nonsynonymous CD52 NM_001803 2 c.A123G p.I41M
19 42213948 C G Hetero Exonic Nonsynonymous CEACAM5 NM_004363 2 c.C414G p.F138L
12 31242362 A G Hetero rs3950588 Exonic Nonsynonymous DDX11 NM_030653 8 c.A818G p.K273R Yes
15 83657820 G C Hetero Exonic Stoploss FAM103A1 NM_031452 3 c.G50C p.X17S
6 76023130 T G Homo Exonic Nonsynonymous FILIP1 NM_015687 5 c.A2418C p.Q806H, Yes
1 152191709 C G Hetero rs6662450 Exonic Nonsynonymous HRNR NM_001009931 3 c.G2396C p.S799T Yes
9 21202136 A G Hetero rs145794215 Exonic Nonsynonymous IFNA7 NM_021057 1 c.T29C p.V10A
7 100635103 A C Hetero Exonic Nonsynonymous MUC12 NM_001164462 2 c.A1259C p.E420A
17 10404435 T G Hetero Exonic Nonsynonymous MYH1 NM_005963 27 c.A3730C p.K1244Q Yes Yes
18 47364086 C T Hetero Exonic Nonsynonymous MYO5B NM_001080467 37 c.G4939A p.D1647N Yes
12 57106659 C G Hetero Exonic Nonsynonymous NACA NM_001113203 10 c.G2674C p.E892Q Yes
1 21795333 C G Hetero Exonic Nonsynonymous NBPF3 NM_032264 3 c.C286G p.Q96E Yes Yes
10 115370274 T C Homo rs10749138 Exonic Nonsynonymous NRAP NM_006175 30 c.A3442G p.I1148V Yes Yes
11 48346916 G C Homo rs77069283 Exonic Nonsynonymous OR4C3 NM_001004702 1 c.G424C p.V142L Yes
11 4608046 T A Hetero Exonic Nonsynonymous OR52I2 NM_001005170 1 c.T4A p.C2S
11 56128081 A G Hetero rs10896290 Exonic Nonsynonymous OR8J1 NM_001005205 1 c.A359G p.Y120C Yes
11 56143823 G A Homo rs77614949 Exonic Nonsynonymous OR8U1, OR8U8 NM_001005204 1 c.G724A p.G242S
X 82764042 G C Hetero rs5921979 Exonic Nonsynonymous POU3F4 NM_000307 1 c.G710C p.G237A Yes
19 43709656 C G Homo rs11883278 Exonic Nonsynonymous PSG4 NM_213633 1 c.G33C p.Q11H Yes
14 21511497 C T Homo rs1243469 Exonic Nonsynonymous RNASE7 NM_032572 2 c.C346T p.H116Y
1 153004853 C T Homo rs3795382 Exonic Nonsynonymous SPRR1B NM_003125 2 c.C32T p.T11I
6 33410273 T A Homo Splicing NA SYNGAP1 NM_006772 14 c.2336+2T>A
12 11174327 C T Hetero rs72475481 Exonic Nonsynonymous TAS2R19 NM_176888 1 c.G844A p.G282R
12 11183676 C T Hetero rs73049072 Exonic Nonsynonymous TAS2R31 NM_176885 1 c.G259A p.V87I
7 35244086 A T Hetero Exonic Nonsynonymous TBX20 NM_001077653 7 c.T999A p.N333K
21 10910347 A G Hetero rs150482 Exonic Nonsynonymous TPTE NM_199261 22 c.T1409C p.L470P
7 99669149 C T Hetero Exonic Nonsynonymous ZNF3 NM_032924 6 c.G958A p.A320T
19 57839150 A G Homo rs8100491 Exonic Nonsynonymous ZNF543 NM_213598 4 c.A320G p.Q107R Yes
12 124497119 T A Hetero Exonic Nonsynonymous ZNF664 NM_001204298 5 c.T428A p.F143Y
19 12501852 C T Hetero Exonic Nonsynonymous ZNF799 NM_001080821 4 c.G1360A p.G454R Yes

Chr: chromosome, *mutations present in Stransky et al., Science 2011 [7], **mutations present in Agrawal et al., Science 2011 [6], Homo: homozygous, Hetero: heterozygous.