Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain VANGL1 81839 genome.wustl.edu 37 1 116206829 116206829 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_138959.2 +1 reviewed p.T251M 1.000 123 0% 135 39.3% 16 37.5% possibly_damaging(0.89) tolerated(0.2) neutral(0.399) HMMPfam_Strabismus FLG 2312 genome.wustl.edu 37 1 152285749 152285749 + Missense_Mutation SNP C C G novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_002016.1 -1 reviewed p.R538T 0.000 565 0% 819 13.7% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL ATP1A2 477 genome.wustl.edu 37 1 160093164 160093164 + Silent SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_000702.3 +1 reviewed p.Y113 0.993 136 0% 174 19.5% 0 - - - - HMMPfam_Cation_ATPase_N,superfamily_SSF81665 KHK 3795 genome.wustl.edu 37 2 27320460 27320460 + Silent SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_000221.2 +1 reviewed p.S169 0.005 63 0% 51 43.1% 1 0% - - - superfamily_Ribokinase-like RBM43 375287 genome.wustl.edu 37 2 152107915 152107915 + Silent SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_198557.2 -1 validated p.Q193 0.000 387 0% 372 36.6% 5 60% - - - NULL NMI 9111 genome.wustl.edu 37 2 152132032 152132032 + Silent SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_004688.2 -1 reviewed p.S200 0.000 192 0% 141 41.1% 71 33.8% - - - NULL CCDC141 285025 genome.wustl.edu 37 2 179701756 179701756 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_173648.2 -1 provisional p.A822V 0.959 194 0% 160 38.1% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL NBEAL2 23218 genome.wustl.edu 37 3 47046765 47046765 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_015175.1 +1 validated p.R2172C 1.000 52 0% 37 13.5% 49 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beach,superfamily_BEACH domain EPHA6 285220 genome.wustl.edu 37 3 97167526 97167526 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001080448.2 +1 provisional p.G616R 1.000 336 0% 243 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL6A5 256076 genome.wustl.edu 37 3 130187695 130187695 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_153264.5 +1 validated p.V2283I 0.028 180 0% 136 44.9% 0 - benign(0.01) - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178951964 178951964 + Missense_Mutation SNP G G C novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_006218.2 +1 reviewed p.G1007R 1.000 318 0% 198 35.9% 15 53.3% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like PIK3CA 5290 genome.wustl.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_006218.2 +1 reviewed p.M1043V 1.000 238 0% 191 38.7% 19 31.5% benign(0.123) deleterious(0.01) neutral(0.416) HMMSmart_PI3Kc,superfamily_Kinase_like HRG 3273 genome.wustl.edu 37 3 186395044 186395044 + Missense_Mutation SNP C C A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_000412.2 +1 reviewed p.P317H 0.000 488 0.2% 494 35.2% 0 - probably_damaging(0.984) deleterious(0.03) deleterious(0.795) NULL MUC4 4585 genome.wustl.edu 37 3 195517843 195517843 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_018406.5 -1 reviewed p.T203M 0.000 592 0.2% 506 41.5% 0 - probably_damaging(0.997) tolerated(0.23) deleterious(0.508) NULL GPRIN3 285513 genome.wustl.edu 37 4 90170279 90170279 + Missense_Mutation SNP A A C novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_198281.2 -1 validated p.V328G 0.112 77 0% 59 33.9% 3 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL STOX2 56977 genome.wustl.edu 37 4 184827971 184827971 + Missense_Mutation SNP C C G novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_020225.1 +1 provisional p.R10G 1.000 28 0% 16 43.8% 0 - possibly_damaging(0.852) deleterious(0.01) deleterious(0.733) NULL TRIO 7204 genome.wustl.edu 37 5 14290858 14290858 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_007118.2 +1 validated p.V192I 1.000 297 0% 242 36% 3 0% unknown(0) tolerated(1) - HMMSmart_SM00516,superfamily_CRAL/TRIO domain DAB2 1601 genome.wustl.edu 37 5 39390554 39390554 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001343.2 -1 validated p.G152R 1.000 212 0% 144 34% 13 15.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like HAPLN1 1404 genome.wustl.edu 37 5 82948398 82948398 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001884.3 -1 validated p.G116R 0.091 263 0% 181 34.3% 1 0% benign(0) tolerated(1) - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LRRTM2 26045 genome.wustl.edu 37 5 138208801 138208801 + Silent SNP C C A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_015564.2 -1 validated p.P483 0.900 363 0.3% 299 35.1% 0 - - - - NULL UBR2 23304 genome.wustl.edu 37 6 42584989 42584989 + Silent SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_015255.2 +1 reviewed p.Q398 1.000 477 0% 401 47.4% 5 40% - - - NULL TFAP2B 7021 genome.wustl.edu 37 6 50810959 50810959 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_003221.3 +1 reviewed p.A413T 1.000 55 1.8% 60 18.3% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_TF_AP-2 INVS 27130 genome.wustl.edu 37 9 102992081 102992081 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_014425.2 +1 reviewed p.S196N 1.000 249 0% 191 14.7% 8 25% possibly_damaging(0.676) tolerated(0.18) neutral(0.296) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PTEN 5728 genome.wustl.edu 37 10 89717715 89717716 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 ENST00000371953 +1 known p.P248fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 ATHL1 80162 genome.wustl.edu 37 11 292052 292052 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_025092.4 +1 validated p.T328M 0.742 67 0% 41 41.5% 91 34% probably_damaging(0.978) tolerated(0.14) deleterious(0.670) HMMPfam_Glyco_hydro_65m,superfamily_Six-hairpin glycosidases NUP98 4928 genome.wustl.edu 37 11 3722049 3722049 + Missense_Mutation SNP T T C novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_016320.4 -1 reviewed p.K1178R 1.000 316 0% 296 39.5% 24 41.6% probably_damaging(0.992) tolerated(0.22) deleterious(0.489) NULL PAX6 5080 genome.wustl.edu 37 11 31815103 31815103 + Splice_Site SNP T T C novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001604.4 -1 reviewed e9-2 1.000 490 0% 443 38.8% 2 100% - - - - CD248 57124 genome.wustl.edu 37 11 66082337 66082337 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_020404.2 -1 validated p.R721H 0.303 57 0% 38 26.3% 27 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SPTBN2 6712 genome.wustl.edu 37 11 66454626 66454626 + Silent SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_006946.2 -1 reviewed p.N2245 0.154 27 0% 35 34.3% 19 47.3% - - - HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00150,superfamily_PH domain-like MMP10 4319 genome.wustl.edu 37 11 102649988 102649988 + Missense_Mutation SNP A A T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_002425.2 -1 reviewed p.L151Q 0.000 541 0% 350 40% 3 0% possibly_damaging(0.639) deleterious(0) deleterious(0.668) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" KDELC1 79070 genome.wustl.edu 37 13 103443397 103443397 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_024089.2 -1 reviewed p.R313C 1.000 268 0% 181 34.3% 5 40% possibly_damaging(0.474) tolerated(0.12) neutral(0.417) HMMSmart_CAP10,HMMPfam_DUF821 PRKCH 5583 genome.wustl.edu 37 14 61857945 61857945 + Silent SNP G G C novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_006255.3 +1 reviewed p.V122 1.000 222 0% 184 38% 6 33.3% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SNAPC1 6617 genome.wustl.edu 37 14 62229196 62229196 + Silent SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_003082.3 +1 validated p.G6 0.998 74 0% 61 39.3% 5 80% - - - HMMPfam_SNAPc_SNAP43 GALNTL1 57452 genome.wustl.edu 37 14 69792121 69792121 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_020692.2 +1 validated p.P168S 1.000 487 0% 322 42.2% 6 83.3% possibly_damaging(0.916) tolerated(0.18) neutral(0.423) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases FBLN5 10516 genome.wustl.edu 37 14 92353550 92353550 + Silent SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_006329.3 -1 reviewed p.G242 0.000 256 0% 156 34.6% 30 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin AHNAK2 113146 genome.wustl.edu 37 14 105420793 105420793 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_138420.2 -1 validated p.S332L 0.001 91 0% 78 25.6% 0 - benign(0.29) deleterious(0) deleterious(0.534) NULL RYR3 6263 genome.wustl.edu 37 15 33855189 33855189 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001036.3 +1 validated p.R375H 1.000 222 0.5% 184 37.5% 0 - probably_damaging(0.999) - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815) MYO5A 4644 genome.wustl.edu 37 15 52676446 52676446 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_000259.3 -1 reviewed p.R609H 1.000 417 0.2% 376 39.1% 0 - possibly_damaging(0.771) tolerated(0.07) deleterious(0.605) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NTRK3 4916 genome.wustl.edu 37 15 88726684 88726684 + Silent SNP G G T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001012338.1 -1 reviewed p.P120 1.000 178 0% 134 29.9% 1 0% - - - superfamily_L domain-like NTRK3 4916 genome.wustl.edu 37 15 88799222 88799222 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001012338.1 -1 reviewed p.P55S 1.000 508 0% 342 36.5% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_LRRNT,HMMSmart_SM00013 CACNA1H 8912 genome.wustl.edu 37 16 1261517 1261517 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_021098.2 +1 reviewed p.D1463N 0.999 56 0% 36 36.1% 1 0% benign(0.23) tolerated(0.16) neutral(0.082) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KIAA0430 9665 genome.wustl.edu 37 16 15696480 15696481 + Frame_Shift_Ins INS - - AGGAAAGAAGGAGGGAGGCAGAG rs79821793 TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 ENST00000344181 -1 known p.P1114fs 0.000:0.000 - - - - - - - - - NULL SCN4A 6329 genome.wustl.edu 37 17 62049140 62049140 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_000334.4 -1 reviewed p.D185N 0.302 64 0% 41 14.6% 0 - benign(0.135) tolerated(0.15) neutral(0.253) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels AZI1 22994 genome.wustl.edu 37 17 79174223 79174223 + Missense_Mutation SNP G G T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_014984.2 -1 validated p.A271D 1.000 22 0% 10 40% 9 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL C17orf70 80233 genome.wustl.edu 37 17 79514366 79514366 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_025161.5 -1 validated p.T430M 0.963 15 6.7% 23 39.1% 18 38.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL IZUMO4 113177 genome.wustl.edu 37 19 2098980 2098980 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001039846.1 +1 validated p.R187H 0.000 40 0% 31 38.7% 1 0% possibly_damaging(0.836) tolerated(0.14) deleterious(0.569) NULL MUC16 94025 genome.wustl.edu 37 19 9062881 9062881 + Missense_Mutation SNP A A G novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_024690.2 -1 validated p.S8189P 0.000 275 0% 238 37% 0 - unknown(0) - - NULL P2RY11 5032 genome.wustl.edu 37 19 10224429 10224429 + Missense_Mutation SNP G G T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_002566.4 +1 reviewed p.G47V 0.090 33 0% 35 31.4% 16 25% benign(0.251) tolerated(0.47) neutral(0.036) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF486 90649 genome.wustl.edu 37 19 20307780 20307780 + Nonsense_Mutation SNP T T A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_052852.2 +1 provisional p.C87* 0.889 368 0% 282 31.2% 0 - - - - NULL WDR62 284403 genome.wustl.edu 37 19 36595775 36595775 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_001083961.1 +1 validated p.G1473R 0.001 24 0% 23 17.4% 6 0% benign(0.002) deleterious(0.01) neutral(0.406) NULL AP5S1 55317 genome.wustl.edu 37 20 3804885 3804885 + Missense_Mutation SNP C C T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_018347.1 +1 predicted p.L182F 1.000 105 0% 71 38% 14 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PTPRT 11122 genome.wustl.edu 37 20 41400075 41400075 + Missense_Mutation SNP C C G novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_133170.3 -1 reviewed p.Q228H 1.000 110 0% 105 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin TPTE 7179 genome.wustl.edu 37 21 10934946 10934946 + Missense_Mutation SNP T T G novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_199261.2 -1 validated p.N283H 1.000 1336 0% 1069 13.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_(Phosphotyrosine protein) phosphatases II KRTAP13-2 337959 genome.wustl.edu 37 21 31720557 31720557 + Missense_Mutation SNP G G A novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 ENST00000448917 -1 known p.R108C 0.076 243 0% 147 16.3% 0 - - - - HMMPfam_PMG CCT8L2 150160 genome.wustl.edu 37 22 17072972 17072972 + Missense_Mutation SNP G G T novel TCGA-B5-A11S-01A-11D-A122-09 TCGA-B5-A11S-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfc02f7d-4831-4cf4-84cd-395e10949e5d 4c6b19c3-2377-490b-91ef-8e3170cfe841 NM_014406.4 -1 validated p.P157T 0.016 111 0% 77 11.7% 0 - possibly_damaging(0.477) tolerated(0.18) neutral(0.213) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like