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 PRDM16 63976 genome.wustl.edu 37 1 3301765 3301765 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022114.3 +1 reviewed p.A163V 0.014 144 0% 43 37.2% 0 - benign(0.273) tolerated(0.1) neutral(0.316) HMMSmart_SM00317,superfamily_SET domain ARHGEF16 27237 genome.wustl.edu 37 1 3380072 3380072 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014448.3 +1 reviewed p.G142R 0.038 13 0% 14 35.7% 16 31.2% benign(0.007) tolerated(0.16) neutral(0.059) NULL NPHP4 261734 genome.wustl.edu 37 1 5927852 5927852 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015102.2 -1 reviewed p.E1140 1.000 42 0% 24 50% 4 0% - - - NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e ENO1 2023 genome.wustl.edu 37 1 8923374 8923384 + Frame_Shift_Del DEL CCCAACCATTG CCCAACCATTG - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 CCCAACCATTG CCCAACCATTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001428.2 -1 reviewed p.N363fs 1.000:1.000:1.000:1.000:0.982:1.000:1.000:0.942:0.999:1.000:1.000 - - - - - - - - - HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like MFN2 9927 genome.wustl.edu 37 1 12064077 12064077 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001127660.1 +1 reviewed p.R397W 1.000 93 0% 45 44.4% 11 45.4% probably_damaging(0.953) tolerated(0.11) deleterious(0.668) NULL CELA2B 51032 genome.wustl.edu 37 1 15808197 15808197 + Silent SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000442979 +1 known p.V97 0.000 7 0.000 53 0.453 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZBTB17 7709 genome.wustl.edu 37 1 16269682 16269682 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003443.2 -1 validated p.Q569* 1.000 370 0% 69 34.8% 30 46.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CLCNKA 1187 genome.wustl.edu 37 1 16355263 16355263 + Frame_Shift_Del DEL G G - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004070.3 +1 reviewed p.V326fs 0.224 - - - - - - - - - HMMPfam_Voltage_CLC,superfamily_Cl-channel_core MST1P9 11223 genome.wustl.edu 37 1 17084262 17084262 + RNA SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NR_002729.2 -1 validated NULL 1.000 361 0% 92 12% 46 0% - - - - PADI3 51702 genome.wustl.edu 37 1 17597567 17597567 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_016233.2 +1 reviewed p.R314K 0.984 104 0% 19 31.6% 0 - benign(0) tolerated(0.96) - HMMPfam_PAD,superfamily_SSF55909 IL28RA 163702 genome.wustl.edu 37 1 24495979 24495979 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_170743.2 -1 reviewed p.R99C 0.232 75 0% 25 48% 2 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Fibronectin type III CEP85 64793 genome.wustl.edu 37 1 26595090 26595090 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000453146 +1 known p.C160Y 0.921 53 0% 29 51.7% 2 50% - - - NULL SDC3 9672 genome.wustl.edu 37 1 31349582 31349582 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014654.3 -1 reviewed p.A229 0.000 43 2.3% 26 38.5% 12 66.6% - - - HMMPfam_Syndecan ZMYM6 9204 genome.wustl.edu 37 1 35476429 35476429 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_007167.3 -1 validated p.T424I 0.000 116 0% 59 33.9% 4 75% benign(0.055) tolerated(0.4) neutral(0.019) HMMPfam_zf-FCS EIF2C3 192669 genome.wustl.edu 37 1 36520585 36520585 + Missense_Mutation SNP T T G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024852.2 +1 reviewed p.D771E 1.000 215 0% 44 40.9% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Piwi,superfamily_RNaseH_fold OSCP1 127700 genome.wustl.edu 37 1 36894053 36894053 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_206837.2 -1 validated p.M180I 0.000 166 0% 84 33.3% 8 25% benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_Oscp1 OXCT2 64064 genome.wustl.edu 37 1 40236234 40236234 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022120.1 -1 provisional p.V232M 1.000 129 0% 28 25% 1 0% possibly_damaging(0.691) deleterious(0.01) deleterious(0.653) HMMPfam_CoA_trans,superfamily_SSF100950 PTPRF 5792 genome.wustl.edu 37 1 44085424 44085424 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002840.3 +1 reviewed p.R1669Q 1.000 193 0% 57 49.1% 133 44.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRF 5792 genome.wustl.edu 37 1 44086249 44086249 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002840.3 +1 reviewed p.R1788Q 1.000 182 0% 52 44.2% 175 50.2% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTCH2 8643 genome.wustl.edu 37 1 45288125 45288125 + Missense_Mutation SNP T T G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003738.4 -1 reviewed p.N1192H 0.013 44 0% 32 31.2% 1 100% benign(0.051) deleterious(0) neutral(0.448) NULL ZYG11A 440590 genome.wustl.edu 37 1 53333279 53333279 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000371528 +1 known p.A487V 1.000 293 0% 95 44.2% 0 - possibly_damaging(0.69) deleterious(0.01) deleterious(0.653) superfamily_ARM repeat YIPF1 54432 genome.wustl.edu 37 1 54332035 54332035 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018982.3 -1 provisional p.Q223 1.000 37 0% 25 40% 24 29.1% - - - HMMPfam_Yip1 LRRIQ3 127255 genome.wustl.edu 37 1 74492527 74492527 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001105659.1 -1 provisional p.D615 0.000 236 0% 159 38.4% 0 - - - - NULL GBP3 2635 genome.wustl.edu 37 1 89474774 89474774 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018284.2 -1 reviewed p.E505D 0.492 386 0% 116 36.2% 10 30% possibly_damaging(0.893) deleterious(0.03) deleterious(0.716) HMMPfam_GBP_C,superfamily_GBP CDC7 8317 genome.wustl.edu 37 1 91981353 91981353 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001134419.1 +1 reviewed p.R367H 0.976 69 0% 28 53.6% 1 0% possibly_damaging(0.78) tolerated(0.05) deleterious(0.637) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C1orf88 128344 genome.wustl.edu 37 1 111893920 111893920 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_181643.4 +1 validated p.V183M 0.983 130 0% 40 55% 13 53.8% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL WDR77 79084 genome.wustl.edu 37 1 111991285 111991285 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024102.2 -1 provisional p.L86P 1.000 17 0% 19 36.8% 25 56% possibly_damaging(0.91) tolerated(0.13) deleterious(0.615) HMMSmart_WD40,superfamily_WD40_like KCND3 3752 genome.wustl.edu 37 1 112524608 112524608 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004980.3 -1 reviewed p.A247 0.009 16 0% 13 38.5% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NRAS 4893 genome.wustl.edu 37 1 115258747 115258747 + Missense_Mutation SNP C C T rs121913237 byCluster TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002524.3 -1 reviewed p.G12D 1.000 278 0% 68 32.4% 4 50% possibly_damaging(0.844) deleterious(0) deleterious(0.768) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases VANGL1 81839 genome.wustl.edu 37 1 116233851 116233851 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_138959.2 +1 reviewed p.R476W 0.802 140 0% 33 42.4% 7 14.2% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_Strabismus ADAM30 11085 genome.wustl.edu 37 1 120437091 120437091 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_021794.2 -1 reviewed p.C623 0.000 48 0% 27 55.6% 0 - - - - HMMSmart_SM00608 POLR3C 10623 genome.wustl.edu 37 1 145594076 145594076 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006468.6 -1 provisional p.R496C 0.998 282 0% 51 43.1% 42 38% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL LOC100289061 100289061 genome.wustl.edu 37 1 150532694 150532694 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_002342133.1 -1 model p.V7M 0.000 75 0% 19 42.1% 3 33.3% - - - NULL FLG 2312 genome.wustl.edu 37 1 152285558 152285558 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002016.1 -1 reviewed p.Q602* 0.000 421 0% 111 46.8% 0 - - - - HMMPfam_Filaggrin SPRR2D 6703 genome.wustl.edu 37 1 153012800 153012800 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006945.4 -1 validated p.C8Y 0.924 120 0% 31 54.8% 6 83.3% unknown(0) - - NULL OR10J3 441911 genome.wustl.edu 37 1 159283582 159283582 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001004467.1 -1 provisional p.V290I 0.935 139 0% 29 62.1% 0 - benign(0.004) tolerated(0.42) neutral(0.014) NULL MYOC 4653 genome.wustl.edu 37 1 171621178 171621178 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000261.1 -1 reviewed p.A192T 0.000 92 0% 28 42.9% 0 - benign(0.028) tolerated(0.19) neutral(0.051) NULL TNR 7143 genome.wustl.edu 37 1 175375469 175375469 + Missense_Mutation SNP C C T rs2239819 byCluster;byFrequency;by2Hit2Allele;byHapMap;by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003285.2 -1 validated p.A128T 0.018 308 0% 64 46.9% 0 - unknown(0) - - NULL C1orf106 55765 genome.wustl.edu 37 1 200880686 200880686 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018265.2 +1 validated p.A440 0.000 28 0% 19 57.9% 1 0% - - - NULL KIF21B 23046 genome.wustl.edu 37 1 200969040 200969040 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_017596.2 -1 provisional p.E580K 0.993 185 0% 38 34.2% 2 50% possibly_damaging(0.85) tolerated(0.61) neutral(0.331) superfamily_WD40_like PKP1 5317 genome.wustl.edu 37 1 201282490 201282490 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000299.2 +1 reviewed p.R168H 1.000 41 0% 27 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYBPH 4608 genome.wustl.edu 37 1 203140583 203140583 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004997.2 -1 validated p.S241P 1.000 50 0% 20 25% 1 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 CDK18 5129 genome.wustl.edu 37 1 205496943 205496943 + Silent SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_212503.2 +1 validated p.R281 1.000 168 0% 40 37.5% 18 38.8% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase BATF3 55509 genome.wustl.edu 37 1 212870362 212870362 + Silent SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018664.2 -1 reviewed p.R46 1.000 249 0% 55 32.7% 4 25% - - - HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 RPS6KC1 26750 genome.wustl.edu 37 1 213414367 213414367 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_012424.3 +1 validated p.C516 1.000 65 0% 31 38.7% 0 - - - - NULL SNORA36B 677818 genome.wustl.edu 37 1 220374014 220374014 + RNA SNP T T G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NR_002994.2 -1 validated NULL 1.000 93 0% 107 43% 0 - - - - - GALNT2 2590 genome.wustl.edu 37 1 230410205 230410205 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004481.3 +1 reviewed p.T485 0.313 116 0% 33 24.2% 19 31.5% - - - HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins PPPDE1 51029 genome.wustl.edu 37 1 244869075 244869075 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_016076.3 +1 validated p.R190H 1.000 26 0% 12 41.7% 6 83.3% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL NLRP3 114548 genome.wustl.edu 37 1 247607392 247607392 + Missense_Mutation SNP A A C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001079821.2 +1 reviewed p.K930Q 0.393 223 0% 35 45.7% 1 0% possibly_damaging(0.492) tolerated(0.22) neutral(0.206) HMMPfam_LRR_1,superfamily_SSF52047 OR11L1 391189 genome.wustl.edu 37 1 248005092 248005092 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001001959.1 -1 provisional p.C36Y 0.000 88 0% 39 25.6% 0 - benign(0) deleterious(0) neutral(0.445) superfamily_SSF81321 GEN1 348654 genome.wustl.edu 37 2 17962210 17962210 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001130009.1 +1 validated p.I577M 0.000 97 0% 35 48.6% 1 0% benign(0.001) tolerated(0.14) neutral(0.249) NULL EPT1 85465 genome.wustl.edu 37 2 26596300 26596300 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000407686 +1 known p.H126Y 1.000 230 0% 105 45.7% 1 100% benign(0.33) tolerated(0.06) neutral(0.426) HMMPfam_CDP-OH_P_transf,PatternScan_CDP_ALCOHOL_P_TRANSF SNX17 9784 genome.wustl.edu 37 2 27595542 27595542 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014748.2 +1 reviewed p.L64P 1.000 149 0% 42 40.5% 31 32.2% benign(0.09) tolerated(0.07) neutral(0.326) HMMPfam_PX,HMMSmart_PX,superfamily_PX ZNF513 130557 genome.wustl.edu 37 2 27601531 27601531 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_144631.4 -1 validated p.T201I 1.000 115 0% 44 43.2% 44 54.5% possibly_damaging(0.952) deleterious(0) deleterious(0.840) superfamily_C2H2 and C2HC zinc fingers CRIM1 51232 genome.wustl.edu 37 2 36744484 36744484 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_016441.1 +1 provisional p.Q669K 1.000 132 0% 36 11.1% 3 0% benign(0.025) tolerated(1) neutral(0.001) NULL HEATR5B 54497 genome.wustl.edu 37 2 37259837 37259837 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_019024.1 -1 validated p.A1099V 1.000 240 0% 61 47.5% 1 100% benign(0) tolerated(0.11) neutral(0.272) superfamily_ARM repeat SPTBN1 6711 genome.wustl.edu 37 2 54864854 54864854 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003128.2 +1 reviewed p.R1258G 0.997 144 0% 66 50% 9 33.3% benign(0.002) tolerated(0.37) neutral(0.019) HMMSmart_SM00150,superfamily_Spectrin repeat EML6 400954 genome.wustl.edu 37 2 55071206 55071206 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001039753.2 +1 validated p.C290 1.000 175 0% 46 30.4% 0 - - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase ALMS1 7840 genome.wustl.edu 37 2 73717769 73717769 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015120.4 +1 reviewed p.R2894C 0.465 88 0% 53 43.4% 4 50% possibly_damaging(0.693) deleterious(0) deleterious(0.693) NULL DQX1 165545 genome.wustl.edu 37 2 74751333 74751333 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_133637.2 -1 validated p.A178V 1.000 71 0% 23 30.4% 0 - benign(0.43) deleterious(0) deleterious(0.585) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD23 200539 genome.wustl.edu 37 2 97507923 97507923 + Splice_Site SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_144994.7 -1 reviewed e3-1 0.992 68 0% 21 42.9% 0 - - - - - PDCL3 79031 genome.wustl.edu 37 2 101192915 101192915 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024065.4 +1 validated p.R226H 0.401 152 0% 43 25.6% 73 54.7% benign(0.032) tolerated(0.13) neutral(0.254) HMMPfam_Phosducin NPAS2 4862 genome.wustl.edu 37 2 101582229 101582229 + Splice_Site SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002518.3 +1 reviewed e9+1 1.000 70 0% 19 52.6% 0 - - - - - ACOXL 55289 genome.wustl.edu 37 2 111753552 111753552 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001142807.1 +1 validated p.R418W 0.809 330 0% 133 45.1% 0 - possibly_damaging(0.845) deleterious(0.02) deleterious(0.707) HMMPfam_ACOX,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like FOXD4L1 200350 genome.wustl.edu 37 2 114257094 114257094 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_012184.4 +1 reviewed p.T87 0.248 138 0% 46 41.3% 0 - - - - NULL ENSG00000163075 0 genome.wustl.edu 37 2 120414025 120414025 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000443972 +1 known p.T393I 0.820 118 0% 57 33.3% 0 - - - - NULL CLASP1 23332 genome.wustl.edu 37 2 122122752 122122752 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015282.2 -1 validated p.T1332M 1.000 106 0% 28 39.3% 6 50% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) superfamily_ARM repeat BAZ2B 29994 genome.wustl.edu 37 2 160285739 160285739 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_013450.2 -1 validated p.R743C 0.997 109 0% 115 38.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain GAD1 2571 genome.wustl.edu 37 2 171702112 171702112 + Missense_Mutation SNP T T G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000817.2 +1 reviewed p.V283G 1.000 173 0% 56 33.9% 123 57.7% possibly_damaging(0.914) deleterious(0) deleterious(0.810) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases ZAK 51776 genome.wustl.edu 37 2 174128576 174128576 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_016653.2 +1 reviewed p.T552I 1.000 137 0% 64 51.6% 3 66.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL NDUFS1 4719 genome.wustl.edu 37 2 206994842 206994842 + Missense_Mutation SNP A A T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005006.5 -1 reviewed p.L560M 1.000 69 0% 39 35.9% 20 35% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_Molybdopterin,superfamily_SSF53706 IGFBP2 3485 genome.wustl.edu 37 2 217528750 217528750 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000597.2 +1 validated p.R301W 1.000 50 0% 15 40% 243 30.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,superfamily_Thyroglobulin type-1 domain FAM124B 79843 genome.wustl.edu 37 2 225266233 225266233 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001122779.1 -1 validated p.V85I 0.002 81 0% 19 57.9% 0 - benign(0.01) tolerated(0.36) neutral(0.021) NULL COL4A3 1285 genome.wustl.edu 37 2 228159758 228159758 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000091.3 +1 reviewed p.A1166V 0.012 126 0% 66 34.8% 0 - unknown(0) tolerated(0.32) - HMMPfam_Collagen SPHKAP 80309 genome.wustl.edu 37 2 228884688 228884688 + Silent SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001142644.1 -1 validated p.T294 0.000 326 0% 89 31.5% 0 - - - - NULL SP110 3431 genome.wustl.edu 37 2 231067424 231067424 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_080424.2 -1 reviewed p.G307R 0.000 281 0% 73 43.8% 9 33.3% benign(0.095) deleterious(0.03) neutral(0.371) NULL CAB39 51719 genome.wustl.edu 37 2 231624786 231624786 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001130849.1 +1 validated p.A24T 1.000 125 0% 66 33.3% 6 0% benign(0) tolerated(0.63) neutral(0.004) HMMPfam_Mo25,superfamily_ARM repeat CHRND 1144 genome.wustl.edu 37 2 233393243 233393243 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000751.1 +1 reviewed p.C129Y 1.000 222 0% 50 44% 1 100% probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like OR6B2 389090 genome.wustl.edu 37 2 240969576 240969576 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001005853.1 -1 provisional p.R91C 0.000 184 0% 78 24.4% 0 - benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR35 2859 genome.wustl.edu 37 2 241570019 241570019 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005301.2 +1 provisional p.R217H 0.148 32 0% 12 50% 71 57.7% benign(0.004) tolerated(0.27) neutral(0.034) HMMPfam_7tm_1,superfamily_SSF81321 CXXC11 285093 genome.wustl.edu 37 2 242814922 242814922 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_173821.2 +1 validated p.L405 0.000 24 0.000 9 0.556 0 - - - - NULL SRGAP3 9901 genome.wustl.edu 37 3 9027427 9027427 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014850.2 -1 validated p.R1026C 1.000 61 0% 24 41.7% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GHRLOS 100126793 genome.wustl.edu 37 3 10335033 10335034 + RNA INS - - CATG novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NR_004431.2 +1 validated NULL 0.001:0.001 - - - - - - - - - - CAPN7 23473 genome.wustl.edu 37 3 15253637 15253637 + Silent SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014296.2 +1 reviewed p.A43 1.000 101 0% 74 36.5% 1 100% - - - HMMPfam_MIT,HMMSmart_MIT AZI2 64343 genome.wustl.edu 37 3 28365605 28365610 + In_Frame_Del DEL AGTTTT AGTTTT - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 AGTTTT AGTTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022461.3 -1 validated p.KT368in_frame_del 0.453:0.381:0.382:0.590:0.998:0.999 - - - - - - - - - NULL CTNNB1 1499 genome.wustl.edu 37 3 41266104 41266104 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001098209.1 +1 reviewed p.G34E 1.000 84 0% 25 32% 66 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FYCO1 79443 genome.wustl.edu 37 3 46007819 46007819 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024513.2 -1 validated p.L1003I 0.756 146 0% 24 33.3% 4 25% benign(0.41) tolerated(1) neutral(0.133) NULL BSN 8927 genome.wustl.edu 37 3 49698052 49698052 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003458.3 +1 reviewed p.R2925Q 1.000 16 0% 17 41.2% 0 - unknown(0) - - NULL FAM208A 23272 genome.wustl.edu 37 3 56667871 56667871 + Missense_Mutation SNP T T A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001112736.1 -1 validated p.D983V 1.000 61 0% 33 51.5% 6 50% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL FHIT 2272 genome.wustl.edu 37 3 59999858 59999858 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002012.2 -1 reviewed p.R42W 0.995 112 0% 38 63.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HIT,superfamily_HIT-like ATXN7 6314 genome.wustl.edu 37 3 63968093 63968093 + Missense_Mutation SNP T T A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001128149.2 +1 reviewed p.N328K 1.000 69 0% 33 60.6% 1 100% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMPfam_SCA7 OR5H15 403274 genome.wustl.edu 37 3 97888359 97888359 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001005515.1 +1 provisional p.M272I 0.000 212 0% 66 53% 0 - benign(0.024) tolerated(0.17) neutral(0.060) HMMPfam_7tm_1,superfamily_SSF81321 STAG1 10274 genome.wustl.edu 37 3 136078053 136078053 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005862.2 -1 reviewed p.R958H 1.000 153 0% 38 28.9% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PIK3CB 5291 genome.wustl.edu 37 3 138417835 138417835 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006219.1 -1 provisional p.R562* 1.000 118 0% 43 37.2% 1 0% - - - HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold PRR23B 389151 genome.wustl.edu 37 3 138738768 138738768 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001013650.2 -1 validated p.A246T 0.004 17 0% 22 63.6% 0 - benign(0.316) tolerated(0.3) neutral(0.128) HMMPfam_DUF2476 ATR 545 ucsc.edu 37 3 142217557 142217557 + Frame_Shift_Del DEL T - - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001184.3 -1 reviewed p.R1814fs 1 - - - - - - - - - HMMPfam_FAT,superfamily_ARM repeat,superfamily_TPR-like EIF2A 83939 genome.wustl.edu 37 3 150299425 150299425 + Silent SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032025.3 +1 validated p.S506 0.152 96 0% 70 41.4% 85 34.1% - - - NULL SLITRK3 22865 genome.wustl.edu 37 3 164908548 164908548 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014926.2 -1 validated p.A24V 1.000 153 0% 37 32.4% 0 - benign(0.017) deleterious(0.05) neutral(0.346) NULL TNIK 23043 genome.wustl.edu 37 3 170789081 170789081 + Silent SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015028.2 -1 validated p.I1160 1.000 164 0% 82 36.6% 0 - - - - HMMPfam_CNH,HMMSmart_SM00036 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006218.2 +1 reviewed p.E542K 1.000 105 0% 69 31.9% 6 66.6% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold LRCH3 84859 genome.wustl.edu 37 3 197562693 197562693 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032773.2 +1 provisional p.E417D 1.000 130 0% 51 31.4% 0 - possibly_damaging(0.775) deleterious(0.03) deleterious(0.653) superfamily_SSF52058 WHSC2 7469 genome.wustl.edu 37 4 1989663 1989663 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005663.3 -1 reviewed p.R217W 0.967 36 0% 14 28.6% 23 39.1% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL CRMP1 1400 genome.wustl.edu 37 4 5853144 5853144 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001014809.1 -1 reviewed p.S291 0.960 115 0% 61 37.7% 2 0% - - - HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 BOD1L 259282 genome.wustl.edu 37 4 13615173 13615173 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_148894.2 -1 validated p.T429 0.971 137 0% 34 55.9% 1 100% - - - superfamily_SSF81995 GABRA2 2555 genome.wustl.edu 37 4 46388111 46388111 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000807.2 -1 reviewed p.R56Q 1.000 97 0% 67 47.8% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like POLR2B 5431 genome.wustl.edu 37 4 57871482 57871482 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000938.1 +1 reviewed p.R324I 1.000 150 0% 138 42% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase UGT2B11 10720 genome.wustl.edu 37 4 69885594 69885594 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000381096 -1 known p.Y170C 0.291 213 0% 80 43.8% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ENAM 10117 genome.wustl.edu 37 4 71510182 71510182 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_031889.2 +1 reviewed p.D1013 0.326 85 0% 41 53.7% 0 - - - - NULL PTPN13 5783 genome.wustl.edu 37 4 87622950 87622952 + In_Frame_Del DEL AGA AGA - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_080685.2 +1 reviewed p.E399in_frame_del 0.995:1.000:1.000 - - - - - - - - - NULL NAP1L5 266812 genome.wustl.edu 37 4 89618760 89618760 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_153757.2 -1 validated p.G49V 0.000 76 0% 34 50% 4 0% unknown(0) deleterious(0.01) - NULL ANK2 287 genome.wustl.edu 37 4 114286206 114286206 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001148.4 +1 reviewed p.V3634I 1.000 98 0% 26 46.2% 0 - benign(0) - - HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like UGT8 7368 genome.wustl.edu 37 4 115544334 115544334 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001128174.1 +1 validated p.A100T 0.993 162 0% 71 33.8% 6 33.3% possibly_damaging(0.915) tolerated(0.17) neutral(0.425) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase C4orf33 132321 genome.wustl.edu 37 4 130023850 130023850 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001099783.1 +1 validated p.G29* 0.999 154 0% 70 50% 5 40% - - - NULL MAML3 55534 genome.wustl.edu 37 4 140641335 140641335 + Missense_Mutation SNP C C G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018717.4 -1 validated p.Q848H 1.000 256 0% 61 44.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL HHIP 64399 genome.wustl.edu 37 4 145567961 145567961 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022475.1 +1 reviewed p.P45L 1.000 113 0% 48 10.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Folate_rec DDX60 55601 genome.wustl.edu 37 4 169138143 169138143 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_017631.5 -1 validated p.V1694I 0.989 187 0% 187 39.6% 8 50% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL WDR17 116966 genome.wustl.edu 37 4 177049933 177049933 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_170710.4 +1 reviewed p.T303A 1.000 61 0% 71 40.8% 0 - benign(0.08) tolerated(0.32) neutral(0.029) superfamily_Amine_DH_B_like LOC391722 391722 genome.wustl.edu 37 4 185220370 185220370 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_373042.2 -1 model p.T349I 0.999 39 0% 30 33.3% 0 - - - - superfamily_EF-hand AHRR 57491 genome.wustl.edu 37 5 434223 434223 + Silent SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020731.3 +1 reviewed p.S478 0.002 34 0% 35 42.9% 0 - - - - NULL TRIO 7204 genome.wustl.edu 37 5 14497079 14497079 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_007118.2 +1 validated p.G2658S 1.000 179 0% 83 42.2% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO10 4651 genome.wustl.edu 37 5 16673854 16673854 + Silent SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_012334.2 -1 validated p.T1703 0.430 244 0% 47 44.7% 21 33.3% - - - HMMPfam_RA,HMMSmart_B41 TARS 6897 genome.wustl.edu 37 5 33457509 33457509 + Splice_Site SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_152295.3 +1 reviewed e9+1 1.000 114 0% 79 45.6% 3 100% - - - - RAD1 5810 genome.wustl.edu 37 5 34908277 34908279 + RNA DEL TTT TTT - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NR_026591.1 -1 reviewed NULL 0.331:0.276:0.200 - - - - - - - - - - PIK3R1 5295 genome.wustl.edu 37 5 67589607 67589607 + Missense_Mutation SNP A A C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_181523.1 +1 reviewed p.Q457P 1.000 59 0% 110 46.4% 7 42.8% benign(0.001) tolerated(0.1) neutral(0.286) NULL PAPD4 167153 genome.wustl.edu 37 5 78915882 78915882 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001114393.1 +1 validated p.A68D 0.076 32 0% 35 28.6% 2 50% benign(0.014) tolerated(0.09) neutral(0.297) NULL RASA1 5921 genome.wustl.edu 37 5 86682659 86682659 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002890.1 +1 reviewed p.G955D 1.000 207 0.5% 112 39.3% 8 37.5% probably_damaging(0.979) tolerated(0.09) deleterious(0.718) HMMSmart_SM00323,superfamily_GTPase activation domain GAP SNCAIP 9627 genome.wustl.edu 37 5 121758989 121758989 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005460.2 +1 reviewed p.G186D 1.000 81 0% 21 47.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139908776 139908776 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020690.4 +1 reviewed p.Q2082R 0.983 52 0% 29 44.8% 32 62.5% benign(0.31) tolerated(0.85) neutral(0.097) NULL SLC35A4 113829 genome.wustl.edu 37 5 139947467 139947467 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_080670.2 +1 provisional p.G238V 0.040 62 0% 27 33.3% 60 46.6% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_Nuc_sug_transp PCDHA4 56144 genome.wustl.edu 37 5 140188961 140188961 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018907.2 +1 reviewed p.G730D 0.229 55 0% 19 36.8% 6 83.3% possibly_damaging(0.787) deleterious(0.04) deleterious(0.643) NULL PCDHA10 56139 genome.wustl.edu 37 5 140235957 140235957 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018901.2 +1 reviewed p.I108 0.982 67 0% 24 54.2% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140347035 140347035 + Silent SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018899.5 +1 reviewed p.T228 0.207 31 0.000 7 0.714 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB1 29930 genome.wustl.edu 37 5 140431693 140431693 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_013340.2 +1 reviewed p.T213M 0.979 28 0% 15 66.7% 0 - probably_damaging(0.964) tolerated(0.07) deleterious(0.726) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin NR3C1 2908 genome.wustl.edu 37 5 142780089 142780089 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001024094.1 -1 reviewed p.Q106* 1.000 89 0% 20 35% 0 - - - - HMMPfam_GCR PPARGC1B 133522 genome.wustl.edu 37 5 149212510 149212510 + Missense_Mutation SNP C C T rs11959820 byCluster;byFrequency;byHapMap;by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_133263.3 +1 reviewed p.R292C 0.999 20 0% 15 53.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP10B 23120 genome.wustl.edu 37 5 160114970 160114970 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_025153.2 -1 validated p.Q38* 0.015 179 0% 46 28.3% 0 - - - - NULL GABRG2 2566 genome.wustl.edu 37 5 161576155 161576155 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_198903.2 +1 reviewed p.A362T 1.000 341 0% 89 48.3% 0 - possibly_damaging(0.84) deleterious(0) deleterious(0.766) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore CCDC99 54908 genome.wustl.edu 37 5 169021585 169021585 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_017785.4 +1 validated p.R264Q 1.000 187 0% 83 49.4% 4 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL STK10 6793 genome.wustl.edu 37 5 171491817 171491817 + Splice_Site SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005990.3 -1 reviewed e13-1 1.000 256 0% 41 48.8% 0 - - - - - UNC5A 90249 genome.wustl.edu 37 5 176306789 176306789 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_133369.2 +1 validated p.H811Y 1.000 44 0% 19 31.6% 0 - possibly_damaging(0.878) deleterious(0.01) deleterious(0.748) HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like FGFR4 2264 genome.wustl.edu 37 5 176517136 176517137 + Frame_Shift_Ins INS - - GTGT rs111413202 TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000377207 +1 known p.V27fs 0.008:0.012 - - - - - - - - - NULL ZFP62 643836 genome.wustl.edu 37 5 180276178 180276178 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_152283.4 -1 validated p.T713A 0.580 146 0% 58 43.1% 15 20% possibly_damaging(0.95) tolerated(0.51) neutral(0.403) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MBOAT1 154141 genome.wustl.edu 37 6 20124709 20124709 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001080480.1 -1 provisional p.P279 0.899 108 0% 43 37.2% 30 40% - - - HMMPfam_MBOAT FAM65B 9750 genome.wustl.edu 37 6 24825503 24825503 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014722.2 -1 validated p.V961A 1.000 135 0% 36 52.8% 0 - benign(0.106) tolerated(0.84) neutral(0.009) superfamily_ARM repeat POM121L2 94026 genome.wustl.edu 37 6 27279814 27279814 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000444565 -1 known p.R46C 0.319 35 0% 22 40.9% 0 - possibly_damaging(0.683) deleterious(0.03) deleterious(0.608) NULL GABBR1 2550 genome.wustl.edu 37 6 29571043 29571043 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000485026 -1 known p.R256C 0.001 58 0% 224 12.5% 22 59% - - - NULL RPS10 6204 genome.wustl.edu 37 6 34392483 34392483 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001014.3 -1 reviewed p.R95 0.998 56 0% 21 28.6% 3350 42.6% - - - HMMPfam_S10_plectin TULP1 7287 genome.wustl.edu 37 6 35477071 35477071 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003322.3 -1 reviewed p.R246M 0.021 203 0% 103 38.8% 0 - benign(0.075) deleterious(0) neutral(0.450) NULL PEX6 5190 genome.wustl.edu 37 6 42934349 42934349 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000287.3 -1 reviewed p.A670T 0.430 118 0% 60 43.3% 22 59% probably_damaging(0.954) tolerated(0.06) deleterious(0.720) superfamily_P-loop containing nucleoside triphosphate hydrolases CUL7 9820 genome.wustl.edu 37 6 43015922 43015922 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014780.4 -1 reviewed p.C711 0.873 54 0% 20 40% 3 66.6% - - - NULL ABCC10 89845 genome.wustl.edu 37 6 43400551 43400551 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_033450.2 +1 reviewed p.Y235C 0.991 57 0% 24 45.8% 1 0% benign(0.004) deleterious(0.01) neutral(0.406) superfamily_ABC_TM_1 IL17A 3605 genome.wustl.edu 37 6 52054069 52054069 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002190.2 +1 reviewed p.P149 0.005 61 0% 31 51.6% 0 - - - - superfamily_Cystine-knot cytokines AKD1 221264 genome.wustl.edu 37 6 109965876 109965876 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001145128.2 -1 provisional p.H259Y 0.962 158 0% 59 49.2% 2 0% possibly_damaging(0.936) tolerated(0.68) neutral(0.384) superfamily_P-loop containing nucleoside triphosphate hydrolases VNN2 8875 genome.wustl.edu 37 6 133078952 133078952 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004665.2 -1 reviewed p.D24G 0.006 157 0% 67 40.3% 0 - probably_damaging(0.984) deleterious(0.02) deleterious(0.814) superfamily_Ntlse/CNhydtse ALDH8A1 64577 genome.wustl.edu 37 6 135239890 135239890 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022568.2 -1 reviewed p.T376M 1.000 90 0% 21 47.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldedh,superfamily_ALDH-like STXBP5 134957 genome.wustl.edu 37 6 147527114 147527114 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001127715.1 +1 reviewed p.R53H 1.000 298 0% 49 46.9% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like MYCT1 80177 genome.wustl.edu 37 6 153043372 153043372 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_025107.2 +1 validated p.A231V 1.000 97 0% 27 48.1% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL FNDC1 84624 genome.wustl.edu 37 6 159687201 159687201 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000329629 +1 known p.V1686M 0.997 234 0% 29 34.5% 0 - - - - NULL AMPH 273 genome.wustl.edu 37 7 38433787 38433787 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001635.2 -1 reviewed p.A476T 0.017 67 0% 23 43.5% 0 - benign(0) tolerated(0.84) neutral(0.001) NULL VPS41 27072 genome.wustl.edu 37 7 38816314 38816314 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014396.3 -1 reviewed p.V283I 0.993 113 0% 81 32.1% 1 0% benign(0) tolerated(0.25) neutral(0.037) superfamily_WD40 repeat-like NUDCD3 23386 genome.wustl.edu 37 7 44467293 44467293 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015332.3 -1 reviewed p.E173 0.999 151 0% 40 55% 10 30% - - - NULL SUN3 256979 genome.wustl.edu 37 7 48046892 48046892 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001030019.1 -1 validated p.R121H 0.011 171 0% 65 43.1% 0 - benign(0.196) deleterious(0.03) neutral(0.383) NULL VWC2 375567 genome.wustl.edu 37 7 49842320 49842320 + Missense_Mutation SNP A A T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_198570.3 +1 reviewed p.E237V 1.000 156 0% 39 43.6% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 DYNC1I1 1780 genome.wustl.edu 37 7 95434099 95434099 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004411.4 +1 validated p.Q20fs 1.000 - - - - - - - - - NULL ZAN 7455 genome.wustl.edu 37 7 100334930 100334930 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003386.1 +1 reviewed p.A191T 0.788 61 1.6% 20 45% 0 - possibly_damaging(0.438) - - HMMPfam_MAM,HMMSmart_SM00137 ZNHIT1 10467 genome.wustl.edu 37 7 100865999 100865999 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006349.2 +1 validated p.A46V 0.951 44 0% 26 23.1% 187 9.6% possibly_damaging(0.81) deleterious(0.01) deleterious(0.711) NULL TES 26136 genome.wustl.edu 37 7 115897448 115897448 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015641.2 +1 reviewed p.C393Y 1.000 115 0% 20 50% 46 47.8% probably_damaging(0.998) tolerated(0.3) deleterious(0.503) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) KCND2 3751 genome.wustl.edu 37 7 119915447 119915447 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_012281.2 +1 reviewed p.R254H 1.000 165 0% 50 46% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ZC3HC1 51530 genome.wustl.edu 37 7 129658541 129658541 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_016478.3 -1 validated p.R491Q 1.000 121 0% 51 47.1% 9 22.2% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL HIPK2 28996 genome.wustl.edu 37 7 139281547 139281547 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000263551 -1 known p.P878L 1.000 107 0% 68 11.8% 6 16.6% possibly_damaging(0.767) deleterious(0.03) deleterious(0.649) NULL ZDHHC2 51201 genome.wustl.edu 37 8 17065473 17065473 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_016353.4 +1 validated p.G201D 1.000 209 0% 80 42.5% 12 16.6% benign(0.001) tolerated(0.41) neutral(0.015) NULL EXTL3 2137 genome.wustl.edu 37 8 28573797 28573797 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001440.2 +1 provisional p.C74Y 1.000 178 0% 44 18.2% 4 0% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL UNC5D 137970 genome.wustl.edu 37 8 35402007 35402007 + Silent SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000453357 +1 known p.A14 0.018 272 0% 83 21.7% 0 - - - - NULL EYA1 2138 genome.wustl.edu 37 8 72128976 72128976 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000503.4 -1 reviewed p.R437 1.000 259 0% 79 48.1% 0 - - - - HMMPfam_Hydrolase ZFHX4 79776 genome.wustl.edu 37 8 77618149 77618149 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024721.4 +1 validated p.P609L 1.000 129 0% 27 63% 0 - possibly_damaging(0.671) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77766843 77766843 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024721.4 +1 validated p.Q2517H 0.837 93 0% 61 41% 0 - probably_damaging(0.989) - - NULL RNF19A 25897 genome.wustl.edu 37 8 101276971 101276971 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015435.3 -1 reviewed p.R412W 1.000 280 0% 63 39.7% 11 45.4% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SNX31 169166 genome.wustl.edu 37 8 101589289 101589289 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_152628.3 -1 validated p.P395 0.009 359 0% 169 44.4% 0 - - - - NULL EBAG9 9166 genome.wustl.edu 37 8 110567111 110567111 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004215.3 +1 reviewed p.Q106* 1.000 112 0% 57 43.9% 6 0% - - - NULL ADCY8 114 genome.wustl.edu 37 8 132051717 132051717 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001115.2 -1 reviewed p.P288L 1.000 39 0% 15 33.3% 0 - probably_damaging(0.958) tolerated(0.07) deleterious(0.721) NULL TSNARE1 203062 genome.wustl.edu 37 8 143395763 143395763 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_145003.3 -1 validated p.A371 0.000 141 0% 24 37.5% 8 50% - - - superfamily_t-snare KIFC2 90990 genome.wustl.edu 37 8 145697600 145697600 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_145754.2 +1 provisional p.R522Q 0.007 47 0% 26 30.8% 63 52.3% benign(0.057) tolerated(0.16) neutral(0.063) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 RECQL4 9401 genome.wustl.edu 37 8 145737428 145737428 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000428558 -1 known p.P1087S 0.980 26 0% 11 36.4% 31 22.5% - - - NULL HAUS6 54801 genome.wustl.edu 37 9 19070265 19070265 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_017645.3 -1 provisional p.C443Y 0.000 183 0% 53 26.4% 3 66.6% possibly_damaging(0.685) deleterious(0.04) deleterious(0.593) NULL ACER2 340485 genome.wustl.edu 37 9 19446224 19446224 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000380376 +1 known p.Q133 0.010 98 0% 63 34.9% 0 - - - - HMMPfam_aPHC C9orf72 203228 genome.wustl.edu 37 9 27556685 27556685 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018325.2 -1 validated p.H322R 1.000 142 0% 25 56% 7 57.1% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL FAM22F 54754 genome.wustl.edu 37 9 97082832 97082832 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000434357 -1 known p.P242S 0.004 59 0% 28 46.4% 0 - - - - NULL COL15A1 1306 genome.wustl.edu 37 9 101765842 101765842 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001855.3 +1 reviewed p.T391 0.019 54 0% 16 37.5% 3 0% - - - NULL ZNF462 58499 genome.wustl.edu 37 9 109688997 109688997 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_021224.4 +1 validated p.P935L 1.000 64 0% 37 56.8% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 C9orf91 203197 genome.wustl.edu 37 9 117390507 117390507 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_153045.3 +1 validated p.V151I 0.756 235 0% 53 50.9% 3 33.3% benign(0) tolerated(0.93) - NULL CNTRL 11064 genome.wustl.edu 37 9 123919812 123919812 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_007018.4 +1 reviewed p.A1477V 1.000 125 0% 65 33.8% 2 50% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL OLFML2A 169611 genome.wustl.edu 37 9 127572353 127572353 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_182487.2 +1 validated p.D541N 1.000 23 0% 11 36.4% 2 0% possibly_damaging(0.759) tolerated(0.21) neutral(0.325) HMMPfam_OLF,HMMSmart_SM00284 C9orf50 375759 genome.wustl.edu 37 9 132382053 132382053 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_199350.3 -1 validated p.R189W 0.003 291 0% 71 45.1% 1 100% possibly_damaging(0.727) deleterious(0) deleterious(0.709) NULL ADAMTS13 11093 genome.wustl.edu 37 9 136314932 136314932 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_139025.3 +1 reviewed p.V964M 0.342 162 0% 46 45.7% 10 40% possibly_damaging(0.808) deleterious(0.03) deleterious(0.668) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat TPRN 286262 genome.wustl.edu 37 9 140093604 140093604 + Silent SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_173691.3 -1 validated p.A459 0.136 71 0% 19 47.4% 29 55.1% - - - NULL EXD3 54932 genome.wustl.edu 37 9 140246632 140246632 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_017820.3 -1 validated p.R353 0.004 135 0% 32 34.4% 26 26.9% - - - NULL CACNA1B 774 genome.wustl.edu 37 9 141015951 141015951 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000718.2 +1 validated p.L2174 0.940 49 0% 22 36.4% 0 - - - - NULL ADARB2 105 genome.wustl.edu 37 10 1405759 1405759 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018702.2 -1 reviewed p.A181T 1.000 23 0% 10 80% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_dsrm,HMMSmart_DSRM,superfamily_SSF54768 AKR1C3 8644 genome.wustl.edu 37 10 5138656 5138656 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003739.4 +1 reviewed p.R47C 0.987 185 0% 46 63% 2 0% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase,PatternScan_ALDOKETO_REDUCTASE_1 ITIH2 3698 genome.wustl.edu 37 10 7776938 7776938 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002216.2 +1 validated p.Q614R 1.000 74 0% 26 50% 0 - benign(0.113) tolerated(0.29) neutral(0.038) NULL MKX 283078 genome.wustl.edu 37 10 28024186 28024186 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_173576.2 -1 validated p.R156W 0.998 170 0% 31 38.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNA2 1763 genome.wustl.edu 37 10 70190218 70190218 + Missense_Mutation SNP A A T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001080449.1 -1 provisional p.L814H 0.559 140 0% 81 32.1% 2 50% benign(0.002) tolerated(0.08) neutral(0.300) superfamily_P-loop containing nucleoside triphosphate hydrolases LRIT1 26103 genome.wustl.edu 37 10 85992166 85992166 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015613.2 -1 validated p.Y463 0.478 42 0% 20 45% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PTEN 5728 genome.wustl.edu 37 10 89692773 89692773 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000371953 +1 known p.A86V 1.000 216 0% 120 46.7% 7 42.8% benign(0.009) tolerated(0.06) neutral(0.323) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720817 89720819 + In_Frame_Del DEL ATG ATG - rs121913291 TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000371953 +1 known p.D324in_frame_del 1.000:0.996:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PI4K2A 55361 genome.wustl.edu 37 10 99416723 99416723 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018425.2 +1 provisional p.R305H 1.000 106 0% 39 41% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase LOXL4 84171 genome.wustl.edu 37 10 100020778 100020778 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032211.6 -1 reviewed p.R188Q 1.000 75 0% 51 37.3% 0 - probably_damaging(0.986) tolerated(0.34) neutral(0.458) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like PKD2L1 9033 genome.wustl.edu 37 10 102057239 102057239 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_016112.2 -1 reviewed p.R286W 0.337 55 0% 34 29.4% 0 - probably_damaging(0.985) deleterious(0.02) deleterious(0.815) HMMPfam_PKD_channel RBM20 282996 genome.wustl.edu 37 10 112581400 112581400 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001134363.1 +1 reviewed p.R1008Q 0.995 113 0% 45 60% 0 - benign(0.066) deleterious(0.01) neutral(0.410) NULL NHLRC2 374354 genome.wustl.edu 37 10 115661458 115661458 + Silent SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_198514.2 +1 provisional p.A391 0.997 109 0% 38 31.6% 2 0% - - - superfamily_NHL repeat SEC23IP 11196 genome.wustl.edu 37 10 121691658 121691661 + Frame_Shift_Del DEL TCTC TCTC - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 TCTC TCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_007190.2 +1 reviewed p.S864fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_DDHD EBF3 253738 genome.wustl.edu 37 10 131639151 131639151 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000440978 -1 known p.A68T 1.000 89 0% 49 46.9% 0 - - - - NULL KNDC1 85442 genome.wustl.edu 37 10 135038274 135038274 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_152643.6 +1 validated p.S1710 1.000 76 0% 27 44.4% 0 - - - - HMMSmart_SM00147,superfamily_Ras GEF LOC100294349 100294349 genome.wustl.edu 37 11 418560 418560 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_002347179.1 -1 model p.P146L 0.011 50 2% 22 54.5% 57 45.6% - - - NULL PNPLA2 57104 genome.wustl.edu 37 11 823570 823570 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020376.2 +1 provisional p.R247H 1.000 42 0% 12 33.3% 103 44.6% benign(0.025) tolerated(0.3) neutral(0.030) NULL MUC5B 727897 genome.wustl.edu 37 11 1279591 1279591 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002458.1 +1 validated p.F5532L 0.048 86 0% 19 42.1% 149 65.7% unknown(0) - - HMMPfam_VWC,HMMSmart_SM00214 CTSD 1509 genome.wustl.edu 37 11 1778755 1778755 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001909.3 -1 reviewed p.A168V 0.947 70 0% 40 17.5% 303 2.3% possibly_damaging(0.701) tolerated(0.07) deleterious(0.571) HMMPfam_Asp,superfamily_Pept_Aspartic SLC22A18AS 5003 genome.wustl.edu 37 11 2909707 2909707 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_007105.2 -1 validated p.G155 0.018 121 0% 17 58.8% 13 23% - - - NULL CHRNA10 57053 genome.wustl.edu 37 11 3688639 3688639 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020402.2 -1 provisional p.V240M 1.000 8 0.000 10 0.800 0 - possibly_damaging(0.952) deleterious(0.03) deleterious(0.760) superfamily_Neu_channel_TM OR51E1 143503 genome.wustl.edu 37 11 4674410 4674410 + Silent SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_152430.3 +1 validated p.S218 0.425 389 0% 69 50.7% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MPPED2 744 genome.wustl.edu 37 11 30435853 30435853 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001584.2 -1 reviewed p.V230M 1.000 188 0% 73 41.1% 6 66.6% possibly_damaging(0.63) tolerated(0.11) deleterious(0.492) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases TTC17 55761 genome.wustl.edu 37 11 43419565 43419565 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018259.5 +1 validated p.H320 1.000 215 0% 40 37.5% 7 42.8% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 SLC35C1 55343 genome.wustl.edu 37 11 45832557 45832557 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018389.4 +1 reviewed p.R256C 0.000 57 0% 28 39.3% 26 50% benign(0.009) tolerated(0.18) neutral(0.057) HMMPfam_TPT MADD 8567 genome.wustl.edu 37 11 47311499 47311499 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003682.3 +1 reviewed p.V966 1.000 53 0% 30 43.3% 6 33.3% - - - NULL OR5M1 390168 genome.wustl.edu 37 11 56380663 56380663 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001004740.1 -1 provisional p.A106T 0.028 223 0% 78 42.3% 0 - benign(0.017) tolerated(0.61) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 OR5AR1 219493 genome.wustl.edu 37 11 56431513 56431513 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001004730.1 +1 provisional p.M118V 1.000 238 0% 52 48.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 TMX2 51075 genome.wustl.edu 37 11 57480182 57480182 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015959.2 +1 validated p.L31P 0.998 121 0% 25 16% 15 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PATL1 219988 genome.wustl.edu 37 11 59410433 59410433 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_152716.2 -1 validated p.R657* 1.000 156 0% 52 36.5% 7 14.2% - - - NULL INTS5 80789 genome.wustl.edu 37 11 62417239 62417239 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_030628.1 -1 provisional p.P105S 0.999 136 0% 39 41% 10 40% benign(0.075) tolerated(0.12) neutral(0.266) NULL FERMT3 83706 genome.wustl.edu 37 11 63986815 63986815 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_178443.2 +1 reviewed p.V293 1.000 40 0.000 9 0.444 1 0% - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 SIPA1 6494 genome.wustl.edu 37 11 65409720 65409720 + Splice_Site SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006747.3 +1 reviewed e2-1 1.000 51 0% 34 50% 0 - - - - - SPTBN2 6712 genome.wustl.edu 37 11 66476404 66476404 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006946.2 -1 reviewed p.R387H 0.960 107 0% 32 31.2% 1 0% benign(0.161) tolerated(0.2) neutral(0.064) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat KRTAP5-7 440050 genome.wustl.edu 37 11 71238460 71238460 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001012503.1 +1 validated p.P38 0.685 121 0% 51 45.1% 0 - - - - PatternScan_MOLYBDOPTERIN_PROK_1 LOC220077 220077 genome.wustl.edu 37 11 71961996 71961996 + RNA SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XR_017002.2 -1 model NULL 0.301 8 0.000 17 0.529 0 - - - - - PRCP 5547 genome.wustl.edu 37 11 82560221 82560221 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_199418.2 -1 reviewed p.C285Y 1.000 105 1% 34 14.7% 40 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_S28 DYNC2H1 79659 genome.wustl.edu 37 11 103157038 103157038 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001080463.1 +1 reviewed p.R3656C 0.999 177 0% 84 36.9% 0 - possibly_damaging(0.836) tolerated(0.05) deleterious(0.665) HMMPfam_Dynein_heavy ZC3H12C 85463 genome.wustl.edu 37 11 110036165 110036165 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_033390.1 +1 validated p.D785 0.004 77 0% 29 31% 1 0% - - - NULL RDX 5962 genome.wustl.edu 37 11 110108241 110108241 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002906.3 -1 reviewed p.D409 0.997 246 0.4% 83 47% 5 40% - - - HMMPfam_ERM TRIM29 23650 genome.wustl.edu 37 11 119986095 119986095 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_012101.3 -1 reviewed p.S552N 0.986 83 0% 27 40.7% 27 51.8% possibly_damaging(0.778) tolerated(0.15) deleterious(0.532) NULL OR8G2 26492 genome.wustl.edu 37 11 124095979 124095979 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001007249.1 +1 provisional p.L194 0.001 140 0.7% 35 25.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TBRG1 84897 genome.wustl.edu 37 11 124495566 124495566 + Splice_Site SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032811.2 +1 validated e3-1 1.000 67 0% 16 50% 6 16.6% - - - - ENO2 2026 genome.wustl.edu 37 12 7025849 7025849 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001975.2 +1 reviewed p.V66M 1.000 120 0% 41 43.9% 59 45.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Enolase_N,superfamily_Enolase N-terminal domain-like PEX5 5830 genome.wustl.edu 37 12 7361181 7361181 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001131023.1 +1 reviewed p.A452V 1.000 37 0% 19 26.3% 11 54.5% benign(0.173) tolerated(0.25) neutral(0.053) superfamily_SSF48452 CD163L1 283316 genome.wustl.edu 37 12 7556284 7556284 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_174941.4 -1 reviewed p.S419G 0.000 147 0% 41 51.2% 0 - possibly_damaging(0.602) tolerated(0.54) neutral(0.216) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like GYS2 2998 genome.wustl.edu 37 12 21733406 21733406 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_021957.3 -1 reviewed p.E58G 1.000 306 0% 94 48.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glycogen_syn ENSG00000250314 0 genome.wustl.edu 37 12 63397865 63397865 + RNA SNP C C A rs189635358 by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000514535 -1 known NULL 1.000 21 0% 17 23.5% 0 - - - - - RAB3IP 117177 genome.wustl.edu 37 12 70189072 70189072 + Missense_Mutation SNP G G A rs61758771 TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_175623.2 +1 validated p.G295D 1.000 106 0% 36 55.6% 5 80% possibly_damaging(0.574) deleterious(0.01) deleterious(0.603) NULL UBE2N 7334 genome.wustl.edu 37 12 93804512 93804512 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003348.3 -1 reviewed p.T139I 1.000 150 0% 50 42% 59 27.1% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like FICD 11153 genome.wustl.edu 37 12 108912863 108912863 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_007076.2 +1 validated p.Q330* 1.000 66 1.5% 33 66.7% 4 25% - - - NULL SELPLG 6404 genome.wustl.edu 37 12 109017196 109017196 + Missense_Mutation SNP A A C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003006.3 -1 reviewed p.I286M 0.000 180 0% 55 52.7% 5 0% possibly_damaging(0.906) tolerated(0.16) neutral(0.419) NULL LOC100287839 100287839 genome.wustl.edu 37 12 112616970 112616970 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_002343213.1 +1 model p.G512D 0.000 89 0% 31 35.5% 0 - - - - NULL IQCD 115811 genome.wustl.edu 37 12 113633449 113633449 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_138451.1 -1 provisional p.G325 0.993 222 0.9% 66 48.5% 1 0% - - - NULL KDM2B 84678 genome.wustl.edu 37 12 121986793 121986793 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032590.4 -1 reviewed p.P224 0.521 324 0% 73 46.6% 1 100% - - - HMMSmart_SM00558,superfamily_Clavaminate synthase-like HPD 3242 genome.wustl.edu 37 12 122281717 122281718 + Frame_Shift_Del DEL CT CT - rs142252243 by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002150.2 -1 reviewed p.G285fs 1.000:0.977 - - - - - - - - - HMMPfam_Glyoxalase,superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase DHX37 57647 genome.wustl.edu 37 12 125451347 125451347 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032656.2 -1 reviewed p.R528W 0.000 79 0% 22 40.9% 4 75% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) superfamily_SSF52540 TMEM132D 121256 genome.wustl.edu 37 12 130184852 130184852 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_133448.2 -1 validated p.D157 0.012 33 0% 21 61.9% 0 - - - - NULL DDX51 317781 genome.wustl.edu 37 12 132626120 132626120 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_175066.3 -1 validated p.V343M 0.657 39 0% 22 54.5% 15 33.3% benign(0.057) deleterious(0) neutral(0.448) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 LOC729535 729535 genome.wustl.edu 37 13 19271507 19271507 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_001130539.3 +1 model p.S133 0.015 52 0% 16 31.2% 28 0% - - - NULL LATS2 26524 genome.wustl.edu 37 13 21562178 21562178 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014572.2 -1 reviewed p.R581C 0.922 231 0% 44 38.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SKA3 221150 genome.wustl.edu 37 13 21742376 21742376 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000314759 -1 known p.R165Q 0.992 142 0% 128 50.8% 4 75% probably_damaging(0.993) tolerated(0.32) deleterious(0.474) NULL SACS 26278 genome.wustl.edu 37 13 23915307 23915307 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014363.4 -1 reviewed p.L903P 1.000 213 0% 75 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPG20 23111 genome.wustl.edu 37 13 36909466 36909466 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001142294.1 -1 reviewed p.A168T 0.549 49 0% 19 47.4% 3 33.3% benign(0.15) tolerated(1) neutral(0.013) NULL PCDH9 5101 genome.wustl.edu 37 13 67800011 67800011 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_203487.2 -1 reviewed p.A854 0.888 107 0% 37 51.4% 0 - - - - HMMPfam_Protocadherin SLITRK1 114798 genome.wustl.edu 37 13 84455392 84455392 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_052910.1 -1 reviewed p.A84V 1.000 94 0% 40 40% 0 - benign(0.354) tolerated(0.14) neutral(0.361) superfamily_SSF52058 UGGT2 55757 genome.wustl.edu 37 13 96636102 96636102 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020121.3 -1 validated p.A350T 1.000 77 0% 202 42.1% 0 - benign(0.054) tolerated(0.65) neutral(0.007) NULL FAM155A 728215 genome.wustl.edu 37 13 108518528 108518528 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001080396.2 -1 validated p.G139 1.000 10 0% 12 41.7% 0 - - - - NULL LRP10 26020 genome.wustl.edu 37 14 23346230 23346230 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014045.3 +1 validated p.R546C 1.000 51 0% 17 47.1% 97 40.2% unknown(0) deleterious(0) - NULL DCAF11 80344 genome.wustl.edu 37 14 24590580 24590580 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_025230.4 +1 reviewed p.R418Q 1.000 86 0% 22 40.9% 52 51.9% benign(0.011) deleterious(0.04) neutral(0.349) superfamily_WD40 repeat-like CLEC14A 161198 genome.wustl.edu 37 14 38723830 38723830 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_175060.1 -1 provisional p.V466 0.000 54 0% 17 41.2% 17 0% - - - NULL FANCM 57697 genome.wustl.edu 37 14 45606335 45606335 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020937.2 +1 reviewed p.P191H 1.000 131 0% 37 37.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases BMP4 652 genome.wustl.edu 37 14 54416754 54416754 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001202.3 -1 reviewed p.R408H 1.000 124 0.8% 31 38.7% 81 20.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines ARID4A 5926 genome.wustl.edu 37 14 58814485 58814485 + Silent SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002892.3 +1 reviewed p.A431 0.000 78 0% 109 41.3% 2 50% - - - NULL ADAM20 8748 genome.wustl.edu 37 14 70991181 70991181 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003814.4 -1 reviewed p.L148 0.018 81 0% 43 51.2% 0 - - - - HMMPfam_Pep_M12B_propep COQ6 51004 genome.wustl.edu 37 14 74425874 74425876 + In_Frame_Del DEL AAC AAC - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_182476.1 +1 validated p.N245in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_FAD_binding_3,superfamily_SSF51905 LTBP2 4053 genome.wustl.edu 37 14 74976053 74976053 + Silent SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000428.2 -1 reviewed p.C1097 0.004 34 0% 22 45.5% 7 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin STON2 85439 genome.wustl.edu 37 14 81837470 81837470 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_033104.2 -1 provisional p.P145S 1.000 87 0% 39 43.6% 0 - possibly_damaging(0.477) deleterious(0.04) deleterious(0.506) NULL GALC 2581 genome.wustl.edu 37 14 88434714 88434714 + Silent SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000153.2 -1 reviewed p.I291 0.999 94 0% 42 47.6% 1 100% - - - HMMPfam_Glyco_hydro_59,superfamily_(Trans)glycosidases SPATA7 55812 genome.wustl.edu 37 14 88904611 88904611 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018418.4 +1 reviewed p.K549E 0.025 66 0% 21 52.4% 20 40% possibly_damaging(0.69) tolerated(0.12) deleterious(0.508) NULL FOXN3 1112 genome.wustl.edu 37 14 89878337 89878337 + Missense_Mutation SNP C C G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001085471.1 -1 reviewed p.V162L 1.000 64 0% 45 40% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) "HMMPfam_Fork_head,HMMSmart_SM00339,PatternScan_FORK_HEAD_2,superfamily_""Winged helix"" DNA-binding domain" FOXN3 1112 genome.wustl.edu 37 14 89878602 89878602 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001085471.1 -1 reviewed p.L73 0.992 84 0% 28 28.6% 3 33.3% - - - NULL MOAP1 64112 genome.wustl.edu 37 14 93650485 93650485 + Frame_Shift_Del DEL T T - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022151.4 -1 reviewed p.I35fs 0.005 - - - - - - - - - NULL BEGAIN 57596 genome.wustl.edu 37 14 101010248 101010248 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020836.3 -1 validated p.N100D 1.000 112 0% 12 58.3% 0 - probably_damaging(0.998) tolerated(0.15) deleterious(0.716) NULL TMEM121 80757 genome.wustl.edu 37 14 105995394 105995394 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_025268.2 +1 provisional p.A75T 1.000 106 0% 15 60% 1 0% possibly_damaging(0.465) deleterious(0.01) deleterious(0.558) NULL ATP10A 57194 genome.wustl.edu 37 15 25963467 25963467 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024490.3 -1 reviewed p.R481 0.228 41 0.000 8 0.500 0 - - - - superfamily_SSF56784 APBA2 321 genome.wustl.edu 37 15 29346841 29346841 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005503.3 +1 reviewed p.H252Y 1.000 30 0% 28 32.1% 4 0% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL FAM189A1 23359 genome.wustl.edu 37 15 29428601 29428601 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015307.1 -1 validated p.E299K 1.000 42 0% 14 35.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL TJP1 7082 genome.wustl.edu 37 15 30026577 30026577 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003257.3 -1 validated p.V473I 1.000 171 0% 88 29.5% 3 66.6% possibly_damaging(0.889) tolerated(0.19) neutral(0.399) superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like FAM98B 283742 genome.wustl.edu 37 15 38757590 38757590 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_173611.2 +1 validated p.C113Y 1.000 68 0% 77 44.2% 9 11.1% probably_damaging(0.958) tolerated(0.08) deleterious(0.702) HMMPfam_DUF2465 THBS1 7057 genome.wustl.edu 37 15 39885831 39885831 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003246.2 +1 reviewed p.R1077W 1.000 44 0% 16 75% 23 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_C,superfamily_Concanavalin A-like lectins/glucanases STARD9 57519 genome.wustl.edu 37 15 42978899 42978899 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_001129482.3 +1 model p.A1622V 0.035 84 0% 30 46.7% 0 - benign(0) - - NULL STARD9 57519 genome.wustl.edu 37 15 42984001 42984001 + Missense_Mutation SNP A A T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_001129482.3 +1 model p.M3323L 0.000 107 0% 47 31.9% 2 0% benign(0) - - NULL UBR1 197131 genome.wustl.edu 37 15 43352006 43352006 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_174916.2 -1 reviewed p.V293 1.000 78 0% 42 28.6% 2 0% - - - HMMPfam_ClpS,superfamily_ClpS-like LOC100287308 100287308 genome.wustl.edu 37 15 65385487 65385487 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_002343349.1 -1 model p.H140R 0.980 16 0.000 7 0.571 7 57.1% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL C15orf59 388135 genome.wustl.edu 37 15 74032683 74032683 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001039614.1 -1 predicted p.R153* 0.937 33 0% 18 44.4% 13 38.4% - - - NULL LINGO1 84894 genome.wustl.edu 37 15 77907452 77907452 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032808.5 -1 validated p.T266M 1.000 183 0% 119 40.3% 22 22.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,superfamily_L domain-like KIAA1024 23251 genome.wustl.edu 37 15 79750301 79750301 + Silent SNP C C A rs186514185 by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015206.2 +1 validated p.G604 0.003 44 0% 19 52.6% 0 - - - - NULL HAPLN3 145864 genome.wustl.edu 37 15 89422404 89422404 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_178232.2 -1 reviewed p.S197F 0.998 43 0% 19 42.1% 67 52.2% probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like CHTF18 63922 genome.wustl.edu 37 16 847075 847075 + Missense_Mutation SNP G G A rs143075525 by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022092.2 +1 validated p.A906T 0.001 27 0% 22 22.7% 32 21.8% benign(0.02) tolerated(0.38) neutral(0.019) NULL SSTR5 6755 genome.wustl.edu 37 16 1129320 1129320 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001053.3 +1 reviewed p.R151H 1.000 18 0.000 5 1.000 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC9A3R2 9351 genome.wustl.edu 37 16 2087920 2087920 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001130012.1 +1 validated p.R317* 0.002 60 0% 21 28.6% 178 38.7% - - - HMMPfam_EBP50_C-term TIGD7 91151 genome.wustl.edu 37 16 3349601 3349601 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_033208.2 -1 validated p.C338 1.000 100 0% 72 43.1% 4 0% - - - HMMPfam_DDE ZNF597 146434 genome.wustl.edu 37 16 3487047 3487047 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_152457.1 -1 provisional p.S218G 0.044 140 0% 53 35.8% 1 100% benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CDR2 1039 genome.wustl.edu 37 16 22358366 22358366 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001802.1 -1 validated p.I429V 1.000 239 0% 109 45% 6 66.6% possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL ENSG00000196585 0 genome.wustl.edu 37 16 28425446 28425446 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000357646 +1 known p.A141 0.678 57 1.8% 22 90.9% 0 - - - - HMMPfam_CDC37_C ASPHD1 253982 genome.wustl.edu 37 16 29913155 29913155 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_181718.3 +1 validated p.G288D 1.000 9 0.000 14 0.429 1 0% possibly_damaging(0.905) deleterious(0.01) deleterious(0.765) HMMPfam_Asp_Arg_Hydrox ITGAL 3683 genome.wustl.edu 37 16 30518050 30518050 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002209.2 +1 reviewed p.R794H 0.494 139 0% 40 42.5% 1 0% benign(0.057) tolerated(0.17) neutral(0.062) HMMPfam_Integrin_alpha2,superfamily_Integrin domains STX4 6810 genome.wustl.edu 37 16 31045645 31045648 + Frame_Shift_Del DEL GAGT GAGT - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 GAGT GAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004604.3 +1 provisional p.S78fs 0.997:1.000 - - - - - - - - - HMMPfam_Syntaxin,HMMSmart_SynN,superfamily_t-snare SIAH1 6477 genome.wustl.edu 37 16 48396114 48396114 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001006610.1 -1 reviewed p.R107W 1.000 114 0% 59 32.2% 33 39.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57850 SALL1 6299 genome.wustl.edu 37 16 51174792 51174792 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002968.2 -1 reviewed p.F447 1.000 73 0% 27 48.1% 11 54.5% - - - NULL SLC9A5 6553 genome.wustl.edu 37 16 67289688 67289688 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004594.2 +1 validated p.A256T 1.000 61 0% 10 50% 0 - benign(0.289) deleterious(0.03) neutral(0.454) HMMPfam_Na_H_Exchanger AP1G1 164 genome.wustl.edu 37 16 71779137 71779137 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001030007.1 -1 reviewed p.I640V 1.000 168 0% 59 39% 11 18.1% benign(0) tolerated(0.76) neutral(0.001) NULL FBXO31 79791 genome.wustl.edu 37 16 87376495 87376495 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024735.3 -1 validated p.G240 0.004 82 0% 26 15.4% 5 20% - - - NULL MVD 4597 genome.wustl.edu 37 16 88718977 88718977 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002461.1 -1 reviewed p.A387T 0.000 41 0% 11 54.5% 43 41.8% benign(0) tolerated(0.41) neutral(0.015) superfamily_SSF55060 P2RX5 5026 genome.wustl.edu 37 17 3591942 3591942 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002561.2 -1 reviewed p.V289I 0.012 157 0% 56 39.3% 0 - benign(0.003) tolerated(0.46) neutral(0.012) HMMPfam_P2X_receptor ZFP3 124961 genome.wustl.edu 37 17 4995135 4995135 + Silent SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_153018.2 +1 validated p.V112 0.000 53 0% 42 52.4% 0 - - - - NULL GPS2 2874 genome.wustl.edu 37 17 7216092 7216092 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004489.4 -1 reviewed p.R323* 0.038 337 0% 63 47.6% 203 53.6% - - - NULL PLSCR3 57048 genome.wustl.edu 37 17 7294081 7294081 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020360.2 -1 provisional p.R235C 1.000 85 0% 40 45% 47 44.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Scramblase RAI1 10743 genome.wustl.edu 37 17 17697869 17697869 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_030665.3 +1 reviewed p.R536H 0.990 18 0% 25 48% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LOC645139 645139 genome.wustl.edu 37 17 18553673 18553673 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 XM_928169.3 +1 model p.A95 0.869 27 0% 35 45.7% 0 - - - - NULL RPL23A 6147 genome.wustl.edu 37 17 27047820 27047820 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000984.5 +1 reviewed p.R41C 1.000 107 0% 57 40.4% 976 47.7% benign(0.306) deleterious(0.02) deleterious(0.479) HMMPfam_Ribosomal_L23eN SSH2 85464 genome.wustl.edu 37 17 27975222 27975222 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_033389.2 -1 reviewed p.T429I 1.000 213 0% 38 39.5% 0 - benign(0.039) tolerated(0.29) neutral(0.031) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II PEX12 5193 genome.wustl.edu 37 17 33904281 33904281 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000286.2 -1 reviewed p.W152* 0.997 82 0% 25 56% 0 - - - - HMMPfam_Pex2_Pex12 KRT33A 3883 genome.wustl.edu 37 17 39506982 39506982 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004138.2 -1 reviewed p.R13H 1.000 56 0% 20 50% 0 - probably_damaging(0.994) tolerated(0.12) deleterious(0.713) NULL EZH1 2145 genome.wustl.edu 37 17 40855799 40855799 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001991.3 -1 validated p.R686Q 1.000 252 0% 75 42.7% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain G6PC3 92579 genome.wustl.edu 37 17 42153355 42153355 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_138387.3 +1 reviewed p.P329S 1.000 76 0% 26 46.2% 295 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAPT 4137 genome.wustl.edu 37 17 44039764 44039764 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001123066.3 +1 validated p.G21W 0.970 56 0% 42 11.9% 0 - possibly_damaging(0.55) deleterious(0.01) deleterious(0.593) NULL ITGB3 3690 genome.wustl.edu 37 17 45368422 45368422 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000212.2 +1 reviewed p.K410E 1.000 129 0% 38 44.7% 2 0% possibly_damaging(0.704) deleterious(0.01) deleterious(0.659) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_Integrin domains KPNB1 3837 genome.wustl.edu 37 17 45738523 45738524 + Frame_Shift_Del DEL CA CA - novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000290158 +1 known p.Q227fs 0.997:1.000 - - - - - - - - - superfamily_ARM repeat HOXB13 10481 genome.wustl.edu 37 17 46804246 46804246 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006361.5 -1 reviewed p.S254N 1.000 135 0% 30 33.3% 13 100% benign(0.028) tolerated(1) neutral(0.002) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 PHB 5245 genome.wustl.edu 37 17 47489169 47489169 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002634.2 -1 reviewed p.R41* 1.000 130 0% 35 48.6% 78 6.4% - - - HMMPfam_Band_7,HMMSmart_SM00244 ITGA3 3675 genome.wustl.edu 37 17 48154118 48154118 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000505306 +1 known p.G665 0.647 20 0% 16 56.2% 0 - - - - NULL ACE 1636 genome.wustl.edu 37 17 61557756 61557756 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000789.2 +1 reviewed p.D238 0.987 137 0% 38 55.3% 8 0% - - - "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" SMARCD2 6603 genome.wustl.edu 37 17 61911344 61911344 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001098426.1 -1 reviewed p.R369H 1.000 45 0% 67 37.3% 79 48.1% possibly_damaging(0.861) deleterious(0) deleterious(0.778) HMMPfam_SWIB,superfamily_MDM2 DNAI2 64446 genome.wustl.edu 37 17 72306268 72306268 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_023036.4 +1 reviewed p.T487I 0.939 29 0% 14 35.7% 0 - benign(0.253) tolerated(0.44) neutral(0.038) superfamily_WD40 repeat-like KIF19 124602 genome.wustl.edu 37 17 72350995 72350995 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_153209.3 +1 validated p.C927 0.000 72 0% 40 42.5% 0 - - - - NULL RBFOX3 146713 genome.wustl.edu 37 17 77102862 77102862 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001082575.1 -1 validated p.D77 0.888 122 0% 40 37.5% 0 - - - - NULL SLC38A10 124565 genome.wustl.edu 37 17 79220084 79220084 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001037984.1 -1 validated p.F878L 0.000 43 0% 15 40% 101 42.5% benign(0.156) tolerated(0.38) neutral(0.032) NULL ZNF750 79755 genome.wustl.edu 37 17 80789038 80789038 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024702.2 -1 reviewed p.Y431 0.716 52 0% 35 48.6% 1 100% - - - NULL PTPRM 5797 genome.wustl.edu 37 18 8406145 8406145 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001105244.1 +1 reviewed p.Y1461 1.000 208 0% 50 10% 49 12.2% - - - HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II DSC1 1823 genome.wustl.edu 37 18 28720188 28720188 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024421.2 -1 reviewed p.A446V 0.035 99 0% 28 42.9% 0 - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like LOXHD1 125336 genome.wustl.edu 37 18 44057536 44057536 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001145473.2 -1 reviewed p.N480D 1.000 37 0% 11 45.5% 0 - probably_damaging(1) tolerated(0.81) deleterious(0.500) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) LOXHD1 125336 genome.wustl.edu 37 18 44057659 44057659 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001145472.2 -1 reviewed p.R1089W 1.000 104 0% 24 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLAT,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) MIER2 54531 genome.wustl.edu 37 19 326549 326549 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_017550.1 -1 provisional p.S181 0.007 107 0% 43 39.5% 11 36.3% - - - NULL PLIN4 729359 genome.wustl.edu 37 19 4510590 4510590 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001080400.1 -1 provisional p.A1114T 0.000 99 0% 20 55% 1 0% benign(0) tolerated(1) - NULL PTPRS 5802 genome.wustl.edu 37 19 5212060 5212060 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002850.3 -1 reviewed p.P1657 0.029 94 0% 10 40% 67 35.8% - - - superfamily_(Phosphotyrosine protein) phosphatases II ENSG00000182315 0 genome.wustl.edu 37 19 7056433 7056433 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000333843 -1 known p.R176Q 0.000 171 0% 40 22.5% 0 - benign(0.033) tolerated(0.27) neutral(0.035) NULL CAMSAP3 57662 genome.wustl.edu 37 19 7675461 7675461 + Missense_Mutation SNP T T A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001080429.2 +1 validated p.L314Q 0.912 82 0% 25 36% 9 22.2% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Calponin-homology domain CH-domain PDE4A 5141 genome.wustl.edu 37 19 10577963 10577963 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001111307.1 +1 validated p.A776V 0.030 93 0% 27 37% 11 0% benign(0) tolerated(0.09) neutral(0.296) NULL RNASEH2A 10535 genome.wustl.edu 37 19 12918094 12918094 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006397.2 +1 reviewed p.A92T 1.000 307 0% 61 37.7% 43 44.1% possibly_damaging(0.451) tolerated(0.08) neutral(0.448) HMMPfam_RNase_HII,superfamily_Ribonuclease H-like FARSA 2193 genome.wustl.edu 37 19 13035049 13035049 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004461.2 -1 validated p.S435L 1.000 77 0% 30 36.7% 97 46.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2d,superfamily_Class II aaRS and biotin synthetases USHBP1 83878 genome.wustl.edu 37 19 17369154 17369154 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_031941.3 -1 validated p.R363W 0.000 63 0% 16 37.5% 2 0% benign(0.003) deleterious(0.05) neutral(0.345) HMMPfam_MCC-bdg_PDZ SSBP4 170463 genome.wustl.edu 37 19 18542222 18542222 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032627.3 +1 validated p.H143 0.001 13 0.000 8 0.500 16 50% - - - HMMPfam_SSDP TSHZ3 57616 genome.wustl.edu 37 19 31769199 31769199 + Silent SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020856.2 -1 validated p.I500 1.000 94 0% 50 12% 0 - - - - NULL CEP89 84902 genome.wustl.edu 37 19 33392149 33392149 + Splice_Site SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_032816.3 -1 validated e15+2 0.992 222 0% 73 19.2% 0 - - - - - ZNF792 126375 genome.wustl.edu 37 19 35449833 35449833 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_175872.4 -1 validated p.P309L 0.772 233 0% 50 34% 0 - possibly_damaging(0.798) tolerated(0.3) neutral(0.329) superfamily_C2H2 and C2HC zinc fingers RYR1 6261 genome.wustl.edu 37 19 38985197 38985197 + Silent SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_000540.2 +1 reviewed p.G2160 1.000 42 0% 10 40% 0 - - - - HMMPfam_RYDR_ITPR MAP3K10 4294 genome.wustl.edu 37 19 40698397 40698397 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002446.3 +1 reviewed p.Q153 1.000 37 0% 11 54.5% 3 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase SERTAD1 29950 genome.wustl.edu 37 19 40929250 40929250 + Silent SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_013376.3 -1 validated p.V68 1.000 40 0% 11 63.6% 31 25.8% - - - HMMPfam_SERTA MEGF8 1954 genome.wustl.edu 37 19 42879871 42879871 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001410.2 +1 validated p.D2427 0.926 28 0% 15 53.3% 5 60% - - - NULL ZNF226 7769 genome.wustl.edu 37 19 44669961 44669961 + Splice_Site SNP G G T rs193253315 by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001032372.1 +1 validated e0+1 0.003 4 0.000 21 0.333 0 - - - - - DMPK 1760 genome.wustl.edu 37 19 46280758 46280758 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001081563.1 -1 reviewed p.L335 1.000 30 0% 10 40% 26 65.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RUVBL2 10856 genome.wustl.edu 37 19 49514334 49514334 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_006666.1 +1 reviewed p.A289V 0.998 54 0% 27 48.1% 139 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_TIP49,superfamily_SSF52540 SLC17A7 57030 genome.wustl.edu 37 19 49937873 49937873 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020309.3 -1 reviewed p.T208M 1.000 92 0% 35 48.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TMC4 147798 genome.wustl.edu 37 19 54668293 54668293 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001145303.1 -1 validated p.R336W 0.993 44 0% 35 57.1% 65 49.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMC4 147798 genome.wustl.edu 37 19 54675816 54675816 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001145303.1 -1 validated p.S45N 0.995 56 0% 16 37.5% 23 30.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL LILRB2 10288 genome.wustl.edu 37 19 54780712 54780712 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005874.3 -1 reviewed p.L478F 0.115 227 0% 65 41.5% 4 0% benign(0.011) tolerated(0.67) neutral(0.003) NULL VN1R1 57191 genome.wustl.edu 37 19 57967254 57967254 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020633.2 -1 reviewed p.A201T 0.000 175 0% 110 40.9% 1 0% benign(0.001) tolerated(0.58) neutral(0.005) superfamily_Family A G protein-coupled receptor-like SYNDIG1 79953 genome.wustl.edu 37 20 24524088 24524088 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_024893.1 +1 provisional p.R119W 0.997 27 0% 16 56.2% 2 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL HCK 3055 genome.wustl.edu 37 20 30661571 30661571 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002110.3 +1 reviewed p.H93Q 0.995 132 0% 28 32.1% 2 0% possibly_damaging(0.93) tolerated(0.35) neutral(0.397) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain MAPRE1 22919 genome.wustl.edu 37 20 31421661 31421661 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_012325.2 +1 reviewed p.V87A 1.000 186 0% 96 36.5% 19 36.8% possibly_damaging(0.858) deleterious(0) deleterious(0.776) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain RPN2 6185 genome.wustl.edu 37 20 35856957 35856957 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_002951.3 +1 reviewed p.F435S 0.973 91 0% 31 54.8% 253 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribophorin_II ZMYND8 23613 genome.wustl.edu 37 20 45839458 45839458 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_183047.1 -1 reviewed p.S1172N 0.901 305 0% 93 31.2% 50 44% benign(0.121) deleterious(0) neutral(0.454) NULL NFATC2 4773 genome.wustl.edu 37 20 50140049 50140049 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_173091.2 -1 reviewed p.R244H 1.000 18 0% 14 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BCAS1 8537 genome.wustl.edu 37 20 52645179 52645179 + Missense_Mutation SNP C C G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003657.2 -1 reviewed p.A159P 0.028 138 0% 31 35.5% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL CTCFL 140690 genome.wustl.edu 37 20 56087667 56087667 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_080618.2 -1 reviewed p.C491Y 1.000 90 0% 14 35.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DIDO1 11083 genome.wustl.edu 37 20 61525431 61525431 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_033081.1 -1 reviewed p.P896 0.000 160 0% 44 56.8% 5 40% - - - NULL COL20A1 57642 genome.wustl.edu 37 20 61948007 61948007 + Missense_Mutation SNP C C T rs139560899 by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020882.2 +1 validated p.T876M 0.810 51 0% 25 40% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00210 ARFRP1 10139 genome.wustl.edu 37 20 62331871 62331871 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003224.3 -1 reviewed p.R177H 0.980 61 0% 26 34.6% 44 43.1% probably_damaging(0.995) tolerated(0.22) deleterious(0.499) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases KRTAP27-1 643812 genome.wustl.edu 37 21 31709534 31709534 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001077711.1 -1 provisional p.F151 0.135 100 0% 29 37.9% 0 - - - - HMMPfam_PMG DNMT3L 29947 genome.wustl.edu 37 21 45674582 45674582 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_013369.2 -1 reviewed p.T204M 0.000 116 0% 42 47.6% 0 - benign(0.003) tolerated(0.1) neutral(0.286) NULL MCM3AP 8888 genome.wustl.edu 37 21 47704793 47704793 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003906.3 -1 reviewed p.N136 0.000 42 0% 32 37.5% 1 100% - - - NULL CCT8L2 150160 genome.wustl.edu 37 22 17073119 17073119 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014406.4 -1 validated p.V108M 0.630 82 0% 22 31.8% 0 - possibly_damaging(0.762) deleterious(0) deleterious(0.727) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like C22orf25 128989 genome.wustl.edu 37 22 20024560 20024560 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000401833 +1 known p.A41V 0.000 31 0% 48 62.5% 1 0% possibly_damaging(0.507) deleterious(0) deleterious(0.614) NULL CRKL 1399 genome.wustl.edu 37 22 21288426 21288426 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005207.3 +1 reviewed p.G224V 1.000 176 0% 38 47.4% 5 40% possibly_damaging(0.631) tolerated(0.31) neutral(0.247) superfamily_SH3-domain IGLV3-16 28799 genome.wustl.edu 37 22 23089942 23089943 + Frame_Shift_Del DEL CT CT - rs5844518 byCluster;by1000genomes TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000390311 +1 known p.C14fs 0.818:0.656 - - - - - - - - - NULL ZNF70 7621 genome.wustl.edu 37 22 24086754 24086754 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_021916.2 -1 provisional p.G192R 0.998 105 0% 43 37.2% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF57667 TFIP11 24144 genome.wustl.edu 37 22 26892743 26892743 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001008697.1 -1 validated p.V517M 0.948 134 0% 39 61.5% 18 27.7% possibly_damaging(0.658) tolerated(0.13) deleterious(0.485) HMMPfam_TFP11 TTLL1 25809 genome.wustl.edu 37 22 43465830 43465830 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_012263.4 -1 validated p.R45Q 1.000 233 0% 66 47% 8 62.5% probably_damaging(0.979) tolerated(0.07) deleterious(0.741) NULL EFCAB6 64800 genome.wustl.edu 37 22 43972280 43972280 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022785.2 -1 validated p.T1106M 0.002 72 0% 51 31.4% 1 100% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_EF-hand CELSR1 9620 genome.wustl.edu 37 22 46860121 46860121 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000454637 -1 known p.R597H 0.062 55 0% 11 45.5% 1 100% - - - NULL PANX2 56666 genome.wustl.edu 37 22 50617568 50617568 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_052839.3 +1 reviewed p.Y632 0.987 42 0% 33 39.4% 2 50% - - - NULL ENSG00000210082 0 genome.wustl.edu 37 MT 2304 2304 + RNA SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 ENST00000387347 +1 known NULL NULL 24 0% 53 39.6% 8037 45.8% - - - - ZBED1 9189 genome.wustl.edu 37 X 2407560 2407560 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004729.3 -1 reviewed p.L401M 0.997 94 0% 17 58.8% 11 18.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TLR8 51311 genome.wustl.edu 37 X 12938142 12938142 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_138636.4 +1 reviewed p.A328V 0.732 98 0% 42 47.6% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_LRR_1,superfamily_SSF52047 EGFL6 25975 genome.wustl.edu 37 X 13621502 13621502 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_015507.3 +1 reviewed p.C156Y 1.000 157 0% 42 38.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00181,superfamily_Growth factor receptor domain MOSPD2 158747 genome.wustl.edu 37 X 14921086 14921086 + Splice_Site SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_152581.3 +1 validated e7-2 1.000 288 0% 319 42.3% 0 - - - - - CNKSR2 22866 genome.wustl.edu 37 X 21619469 21619469 + Splice_Site SNP T T A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_014927.3 +1 reviewed e18+2 1.000 49 0% 110 44.5% 0 - - - - - POLA1 5422 genome.wustl.edu 37 X 24732781 24732781 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_016937.3 +1 reviewed p.A147T 0.007 147 0% 88 36.4% 1 0% benign(0) tolerated(0.9) - NULL USP9X 8239 genome.wustl.edu 37 X 41077684 41077684 + Missense_Mutation SNP A A G novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001039590.2 +1 reviewed p.H2090R 1.000 299 0% 113 18.6% 25 0% benign(0.002) tolerated(0.81) neutral(0.001) NULL DUSP21 63904 genome.wustl.edu 37 X 44703600 44703600 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_022076.3 +1 reviewed p.T74 0.001 195 0.5% 45 53.3% 0 - - - - HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 ARAF 369 genome.wustl.edu 37 X 47426708 47426708 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001654.3 +1 reviewed p.T318M 0.975 186 0% 66 37.9% 23 91.3% benign(0.154) deleterious(0) neutral(0.458) superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase OTUD6A 139562 genome.wustl.edu 37 X 69282994 69282994 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_207320.1 +1 provisional p.C207Y 0.998 44 0% 15 60% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OTU,superfamily_SSF54001 MAGEE2 139599 genome.wustl.edu 37 X 75004797 75004797 + Silent SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_138703.4 -1 validated p.N30 0.000 39 0% 20 45% 0 - - - - NULL MAGEE1 57692 genome.wustl.edu 37 X 75650269 75650269 + Missense_Mutation SNP T T C novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_020932.2 +1 reviewed p.V649A 0.008 45 0% 21 57.1% 1 0% possibly_damaging(0.95) tolerated(0.5) neutral(0.404) HMMPfam_MAGE ARMCX6 54470 genome.wustl.edu 37 X 100871174 100871174 + Missense_Mutation SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_001009584.1 -1 validated p.G146D 0.000 123 0% 25 28% 12 0% possibly_damaging(0.945) tolerated(0.3) neutral(0.418) HMMPfam_DUF634 CXorf57 55086 genome.wustl.edu 37 X 105891582 105891582 + Missense_Mutation SNP G G T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_018015.5 +1 validated p.K648N 0.001 113 0% 82 46.3% 0 - possibly_damaging(0.881) tolerated(0.14) deleterious(0.593) NULL SMARCA1 6594 genome.wustl.edu 37 X 128657199 128657199 + Missense_Mutation SNP G G A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_003069.3 -1 reviewed p.T50M 0.354 212 0% 44 45.5% 1 0% unknown(0) tolerated(0.11) - NULL AIFM1 9131 genome.wustl.edu 37 X 129289257 129289257 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_145812.2 -1 reviewed p.V37 1.000 112 0% 53 56.6% 0 - benign(0) - - NULL GPR50 9248 genome.wustl.edu 37 X 150349267 150349267 + Missense_Mutation SNP C C A novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_004224.3 +1 reviewed p.H404Q 0.000 169 0% 121 43% 0 - possibly_damaging(0.563) tolerated(0.12) neutral(0.453) NULL PLXNB3 5365 genome.wustl.edu 37 X 153031021 153031021 + Silent SNP C C T novel TCGA-A5-A0VQ-01A-11D-A10B-09 TCGA-A5-A0VQ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1ec1233d-e6bc-4833-9488-2b51b3d28eb6 7c68694a-fafa-4b51-8dfb-72eebc7d25c9 NM_005393.2 +1 reviewed p.L11 0.001 46 0% 15 66.7% 0 - - - - NULL