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 ACTL8 81569 genome.wustl.edu 37 1 18149646 18149646 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_030812.2 +1 validated p.R48H 0.000 94 0% 88 50% 0 - possibly_damaging(0.504) deleterious(0) deleterious(0.613) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ARID1A 8289 genome.wustl.edu 37 1 27101054 27101054 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_006015.4 +1 reviewed p.R1446* 1.000 127 0% 107 45.8% 6 33.3% - - - NULL SYT6 148281 genome.wustl.edu 37 1 114680443 114680443 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_205848.2 -1 validated p.R164C 1.000 121 0% 126 46.8% 0 - benign(0.392) deleterious(0.01) deleterious(0.531) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB PLD5 200150 genome.wustl.edu 37 1 242263975 242263975 + Missense_Mutation SNP T T C novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_152666.1 -1 provisional p.Y358C 0.998 106 0% 115 28.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PLDc,HMMSmart_PLDc,superfamily_SSF56024 NLRP3 114548 genome.wustl.edu 37 1 247587260 247587260 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001079821.2 +1 reviewed p.R172H 0.164 53 0% 53 58.5% 0 - possibly_damaging(0.93) tolerated(0.13) deleterious(0.629) NULL MIR663B 100313824 genome.wustl.edu 37 2 133014651 133014652 + RNA INS - - C rs111708138 TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 ENST00000408361 -1 known NULL 0.027:0.014 - - - - - - - - - - SNORA41 619569 genome.wustl.edu 37 2 207027036 207027039 + RNA DEL TCTT TCTT - rs35841485 TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 TCTT TCTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NR_002590.1 +1 validated NULL 0.763:0.977:0.998:1.000 - - - - - - - - - - THRB 7068 genome.wustl.edu 37 3 24206735 24206735 + Silent SNP G G A rs143423077 by1000genomes TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 ENST00000280696 -1 known p.S37 1.000 177 0% 262 62.6% 0 - - - - NULL COL6A6 131873 genome.wustl.edu 37 3 130279233 130279233 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001102608.1 +1 provisional p.V9M 0.001 162 0% 224 29% 0 - benign(0) - - NULL D4S234E 27065 genome.wustl.edu 37 4 4419143 4419143 + Missense_Mutation SNP C C A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001040101.1 +1 validated p.A180E 1.000 137 0% 87 23% 41 46.3% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Calcyon PCDH7 5099 genome.wustl.edu 37 4 30723196 30723196 + Missense_Mutation SNP T T C novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_032457.3 +1 reviewed p.V51A 1.000 16 0% 10 70% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMSmart_CA,HMMPfam_Cadherin_2 PRDM9 56979 genome.wustl.edu 37 5 23527761 23527761 + Missense_Mutation SNP C C A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_020227.2 +1 provisional p.T855K 1.000 377 0% 283 33.9% 0 - benign(0.375) deleterious(0) deleterious(0.564) superfamily_SSF57667 C9 735 genome.wustl.edu 37 5 39341264 39341264 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001737.3 -1 reviewed p.R154* 0.733 304 0% 274 44.9% 0 - - - - NULL SLC38A9 153129 genome.wustl.edu 37 5 54965097 54965097 + Missense_Mutation SNP A A C novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_173514.2 -1 validated p.L162R 1.000 360 0% 371 41.2% 1 0% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_Aa_trans WDR36 134430 genome.wustl.edu 37 5 110438070 110438070 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_139281.2 +1 reviewed p.W246* 1.000 135 0% 75 42.7% 0 - - - - HMMSmart_WD40,superfamily_Amine_DH_B_like PCDH12 51294 genome.wustl.edu 37 5 141324955 141324956 + In_Frame_Ins INS - - CTGCTGCTG rs5871792 byCluster;by1000genomes TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_016580.2 -1 reviewed p.1182in_frame_insSSS 0.176:0.994 - - - - - - - - - NULL SLC6A7 6534 genome.wustl.edu 37 5 149578837 149578837 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_014228.3 +1 validated p.G211R 1.000 20 0% 48 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF GPLD1 2822 genome.wustl.edu 37 6 24450073 24450073 + Missense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001503.2 -1 reviewed p.V464M 0.001 69 0% 69 47.8% 0 - benign(0.023) deleterious(0.01) neutral(0.407) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain GMNN 51053 genome.wustl.edu 37 6 24784350 24784350 + Missense_Mutation SNP G G C novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_015895.3 +1 validated p.E104Q 1.000 135 0% 76 48.7% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Geminin DDX39B 7919 genome.wustl.edu 37 6 31508242 31508242 + Missense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_004640.5 -1 reviewed p.G23E 1.000 194 0% 198 22.7% 104 32.6% benign(0) tolerated(0.84) neutral(0.001) NULL FAM83B 222584 genome.wustl.edu 37 6 54806576 54806576 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001010872.1 +1 validated p.R936H 1.000 171 0% 183 38.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLEKHG1 57480 genome.wustl.edu 37 6 151121930 151121942 + Frame_Shift_Del DEL GAAACACTCGCTG GAAACACTCGCTG - novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 GAAACACTCGCTG GAAACACTCGCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001029884.1 +1 provisional p.K236fs 0.247:0.278:0.244:0.165:1.000:1.000:1.000:1.000:0.998:0.223:0.926:1.000:1.000 - - - - - - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TAX1BP1 8887 genome.wustl.edu 37 7 27831733 27831733 + Missense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_006024.5 +1 validated p.V383L 0.981 111 0% 109 26.6% 51 31.3% possibly_damaging(0.577) tolerated(0.05) deleterious(0.543) HMMPfam_CALCOCO1 COBL 23242 genome.wustl.edu 37 7 51132909 51132909 + Missense_Mutation SNP G G A rs143548565 by1000genomes TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 ENST00000395540 -1 known p.A445V 0.000 3 0.000 6 0.833 0 - unknown(0) - - NULL PCLO 27445 genome.wustl.edu 37 7 82764904 82764904 + Silent SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_033026.5 -1 validated p.P654 0.127 81 0% 118 23.7% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100679598 100679598 + Missense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001040105.1 +1 provisional p.T1634I 0.149 500 0% 457 23.6% 0 - unknown(0) - - NULL SOX17 64321 genome.wustl.edu 37 8 55372518 55372518 + Missense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_022454.3 +1 reviewed p.S403I 1.000 38 0% 38 28.9% 1261 32.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RP1 6101 genome.wustl.edu 37 8 55540383 55540383 + Missense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_006269.1 +1 reviewed p.A1314V 0.005 267 0% 293 27.3% 0 - possibly_damaging(0.471) deleterious(0) deleterious(0.600) NULL WDYHV1 55093 genome.wustl.edu 37 8 124448775 124448775 + Missense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_018024.1 +1 provisional p.C106F 1.000 95 0% 99 35.4% 8 12.5% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_WDYHV ZCCHC6 79670 genome.wustl.edu 37 9 88938049 88938049 + Silent SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_024617.3 -1 validated p.G872 0.000 237 0% 205 39% 4 25% - - - NULL GABBR2 9568 genome.wustl.edu 37 9 101168378 101168378 + Missense_Mutation SNP A A C novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_005458.7 -1 reviewed p.F428V 1.000 121 0% 141 39.7% 0 - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_ANF_receptor,superfamily_SSF53822 PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C C T rs121909224 byCluster TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 ENST00000371953 +1 known p.R130* 1.000 385 0% 312 83.7% 0 - - - - HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II RRAS2 22800 genome.wustl.edu 37 11 14316389 14316389 + Missense_Mutation SNP T T A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_012250.5 -1 reviewed p.Q72H 1.000 374 0.3% 568 62.3% 6 83.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases APIP 51074 genome.wustl.edu 37 11 34904905 34904905 + Missense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_015957.2 -1 validated p.T203K 1.000 413 0% 550 59.5% 36 75% possibly_damaging(0.515) deleterious(0.01) deleterious(0.579) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase LOC653111 653111 genome.wustl.edu 37 11 89773101 89773101 + Missense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 XM_926073.2 +1 model p.G277V 0.018 237 0% 333 15% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL OVCH1 341350 genome.wustl.edu 37 12 29642587 29642587 + Missense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_183378.2 -1 validated p.A223D 0.067 24 0% 18 50% 0 - possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases OTOGL 283310 genome.wustl.edu 37 12 80771721 80771721 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 XM_002343203.1 +1 model p.E2216K 1.000 45 0% 45 55.6% 0 - benign(0.258) tolerated(0.17) neutral(0.086) HMMSmart_SM00041 GNPTAB 79158 genome.wustl.edu 37 12 102164827 102164827 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_024312.4 -1 reviewed p.E294* 1.000 359 0% 331 47.1% 1 0% - - - NULL TMEM132B 114795 genome.wustl.edu 37 12 126138655 126138655 + Missense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_052907.2 +1 provisional p.P879L 0.995 141 0% 143 35% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL FGF14 2259 genome.wustl.edu 37 13 102375314 102375314 + Missense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_175929.2 -1 reviewed p.A209D 1.000 192 0% 146 45.2% 0 - probably_damaging(0.989) tolerated(0.1) deleterious(0.726) superfamily_Cytok_IL1_like THTPA 79178 genome.wustl.edu 37 14 24028255 24028255 + RNA SNP G G A rs139409555 by1000genomes TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NR_023314.1 +1 validated NULL 1.000 5 0.000 9 0.667 32 40.6% - - - - RNF31 55072 genome.wustl.edu 37 14 24621133 24621133 + Missense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_017999.4 +1 validated p.R688W 1.000 42 0% 55 27.3% 26 30.7% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL MAPK1IP1L 93487 genome.wustl.edu 37 14 55529627 55529648 + Frame_Shift_Del DEL GCCCCAACTGTGCCGGGCCCTG GCCCCAACTGTGCCGGGCCCTG - novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 GCCCCAACTGTGCCGGGCCCTG GCCCCAACTGTGCCGGGCCCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_144578.3 +1 validated p.T106fs 1.000:1.000:1.000:1.000:1.000:0.479:0.101:0.544:0.528:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000 - - - - - - - - - NULL TTC7B 145567 genome.wustl.edu 37 14 91007791 91007791 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001010854.1 -1 provisional p.T818M 1.000 22 0% 36 38.9% 22 36.3% probably_damaging(0.985) tolerated(0.05) deleterious(0.777) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SLC28A2 9153 genome.wustl.edu 37 15 45561684 45561684 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_004212.3 +1 validated p.R506H 1.000 119 0% 135 46.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Nucleos_tra2_C MYO5C 55930 genome.wustl.edu 37 15 52536565 52536565 + Missense_Mutation SNP T T A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_018728.2 -1 validated p.Q793L 1.000 148 0% 105 38.1% 1 0% benign(0.002) tolerated(0.3) neutral(0.029) HMMSmart_SM00015 ADAMTS7 11173 genome.wustl.edu 37 15 79058945 79058947 + In_Frame_Del DEL GCA GCA - novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_014272.3 -1 reviewed p.A1104in_frame_del 0.001:0.000:0.000 - - - - - - - - - NULL ZC3H18 124245 genome.wustl.edu 37 16 88643606 88643606 + Silent SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_144604.3 +1 validated p.D25 0.028 28 0% 29 34.5% 3 33.3% - - - NULL OR1A1 8383 genome.wustl.edu 37 17 3119592 3119592 + Silent SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_014565.2 +1 validated p.Q226 0.051 565 0% 488 43.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ITGA2B 3674 genome.wustl.edu 37 17 42455866 42455866 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_000419.3 -1 reviewed p.P653L 0.876 23 0% 29 44.8% 0 - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_Integrin_alpha2,superfamily_Integrin domains GRIN3B 116444 genome.wustl.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - rs142853420 byCluster;by1000genomes TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_138690.1 +1 provisional p.Q910in_frame_del 0.000:0.001:0.016 - - - - - - - - - NULL ZNF486 90649 genome.wustl.edu 37 19 20308180 20308180 + Missense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_052852.2 +1 provisional p.R221W 0.000 273 0% 258 37.2% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM187B 148109 genome.wustl.edu 37 19 35719284 35719284 + Silent SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_152481.1 -1 provisional p.G100 0.000 125 0% 129 43.4% 0 - - - - NULL HNRNPUL1 11100 genome.wustl.edu 37 19 41800486 41800486 + Silent SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_007040.3 +1 reviewed p.R471 0.981 75 0% 83 38.6% 69 31.8% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases IZUMO2 126123 genome.wustl.edu 37 19 50657969 50657969 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_152358.2 -1 validated p.R171C 0.994 95 0% 105 37.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENSG00000197025 0 genome.wustl.edu 37 19 56889273 56889274 + Frame_Shift_Ins INS - - AGTCCTTT rs11280846 byCluster;by1000genomes TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 ENST00000356456 +1 known p.S224fs 1.000:0.999 - - - - - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KRTAP10-8 386681 genome.wustl.edu 37 21 46032744 46032744 + Missense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_198695.2 +1 validated p.A243S 0.096 121 0% 147 42.9% 0 - unknown(0) tolerated(0.59) - HMMPfam_Keratin_B2 RTDR1 27156 genome.wustl.edu 37 22 23406170 23406170 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_014433.2 -1 reviewed p.G188fs 0.000 - - - - - - - - - superfamily_ARM-type_fold SEC14L4 284904 genome.wustl.edu 37 22 30899666 30899666 + Missense_Mutation SNP C C T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_174977.3 -1 reviewed p.R43Q 1.000 56 0% 23 39.1% 1 100% possibly_damaging(0.899) tolerated(0.15) deleterious(0.597) HMMPfam_CRAL_TRIO_N,superfamily_CRAL/TRIO N-terminal domain RAI2 10742 genome.wustl.edu 37 X 17819515 17819515 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_021785.4 -1 reviewed p.P206S 1.000 75 0% 128 27.3% 2 50% unknown(0) deleterious(0) - NULL LONRF3 79836 genome.wustl.edu 37 X 118143158 118143158 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_001031855.1 +1 reviewed p.E534* 1.000 154 0% 131 36.6% 0 - - - - superfamily_RING/U-box LOC643421 643421 genome.wustl.edu 37 X 120997591 120997591 + Missense_Mutation SNP A A T novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 XM_002343843.1 -1 model p.I116N 0.743 32 0% 39 41% 0 - - - - HMMPfam_TCTP,superfamily_Mss4-like FLNA 2316 genome.wustl.edu 37 X 153593083 153593083 + Missense_Mutation SNP G G A novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 ENST00000420627 -1 known p.L584F 1.000 38 0% 25 28% 14 0% unknown(0) - - NULL IL9R 3581 genome.wustl.edu 37 X 155239799 155239801 + In_Frame_Del DEL AGC AGC - novel TCGA-B5-A0K4-01A-11W-A062-09 TCGA-B5-A0K4-10A-01W-A062-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b97dc818-535e-40c1-afe9-bdeb8ab117cc 62c54fc9-0fac-42cd-bdb0-443716f82a74 NM_002186.2 +1 reviewed p.S434in_frame_del 0.000:0.001:0.001 - - - - - - - - - NULL