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 ARID1A 8289 genome.wustl.edu 37 1 27101135 27101135 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_006015.4 +1 reviewed p.Q1473* 1.000 67 0% 65 24.6% 19 21% - - - NULL BMP8B 656 genome.wustl.edu 37 1 40240606 40240606 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001720.3 -1 reviewed p.R147W 1.000 217 0% 197 12.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGFb_propeptide SYCP1 6847 genome.wustl.edu 37 1 115430264 115430264 + Missense_Mutation SNP A A C novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_003176.2 +1 validated p.D403A 0.951 235 0% 251 25.1% 0 - probably_damaging(0.978) tolerated(0.41) neutral(0.435) HMMPfam_SCP-1 OTOF 9381 genome.wustl.edu 37 2 26697430 26697430 + Missense_Mutation SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_194248.2 -1 reviewed p.R1080H 1.000 62 0% 65 38.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) DPYSL5 56896 genome.wustl.edu 37 2 27167662 27167662 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_020134.3 +1 validated p.D527N 1.000 45 0% 30 23.3% 0 - probably_damaging(0.99) tolerated(1) neutral(0.442) NULL SCN7A 6332 genome.wustl.edu 37 2 167297987 167297987 + Silent SNP G G T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_002976.2 -1 validated p.T692 0.998 229 0% 201 30.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RQCD1 9125 genome.wustl.edu 37 2 219447735 219447735 + Missense_Mutation SNP G G T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_005444.1 +1 provisional p.L82F 1.000 326 0% 313 30.7% 20 30% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Rcd1,superfamily_ARM repeat DNAH12 201625 genome.wustl.edu 37 3 57445467 57445467 + Missense_Mutation SNP C C A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_178504.4 -1 validated p.W905L 1.000 368 0% 323 27.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DHC_N2 COL6A5 256076 genome.wustl.edu 37 3 130095127 130095127 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_153264.5 +1 validated p.D39N 0.047 224 0% 207 40.6% 0 - benign(0.011) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 SI 6476 genome.wustl.edu 37 3 164732949 164732949 + Missense_Mutation SNP C C A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001041.3 -1 reviewed p.V1321F 1.000 427 0% 414 33.6% 0 - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases MECOM 2122 genome.wustl.edu 37 3 169099103 169099103 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_004991.3 -1 validated p.R83* 1.000 236 0% 328 12.5% 12 25% - - - NULL HEATR7B2 133558 genome.wustl.edu 37 5 41015552 41015552 + Silent SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_173489.4 -1 validated p.Q971 0.100 419 0% 361 31% 0 - - - - superfamily_ARM repeat PIK3R1 5295 genome.wustl.edu 37 5 67591109 67591109 + Missense_Mutation SNP C C A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_181523.1 +1 reviewed p.P568T 1.000 341 0% 353 30% 76 56.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL THBS4 7060 genome.wustl.edu 37 5 79355702 79355702 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_003248.4 +1 reviewed p.G321R 1.000 109 0% 116 37.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EGF,superfamily_SSF57196 PCDHA4 56144 genome.wustl.edu 37 5 140187617 140187617 + Nonsense_Mutation SNP C C G novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_018907.2 +1 reviewed p.S282* 0.026 130 0% 149 27.5% 3 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like MAPK14 1432 genome.wustl.edu 37 6 36020504 36020521 + In_Frame_Del DEL CGTGTGGCAGTGAAGAAG CGTGTGGCAGTGAAGAAG - novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 CGTGTGGCAGTGAAGAAG CGTGTGGCAGTGAAGAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001315.2 +1 reviewed p.RVAVKK49in_frame_del 1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:0.594:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ECT2L 345930 genome.wustl.edu 37 6 139135716 139135716 + Nonsense_Mutation SNP T T A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001077706.1 +1 validated p.L52* 0.047 362 0% 303 34.3% 0 - - - - NULL SEMA3A 10371 genome.wustl.edu 37 7 83636679 83636679 + Missense_Mutation SNP C C G novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_006080.2 -1 reviewed p.R377P 1.000 248 0% 226 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema RINT1 60561 genome.wustl.edu 37 7 105195507 105195507 + Missense_Mutation SNP A A C novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_021930.4 +1 validated p.K502Q 1.000 371 0% 357 35.3% 9 55.5% benign(0.134) tolerated(0.31) neutral(0.038) HMMPfam_RINT1_TIP1 MTAP 4507 genome.wustl.edu 37 9 21854833 21854833 + Silent SNP G G C novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_002451.3 +1 reviewed p.A218 1.000 108 0% 111 32.4% 14 28.5% - - - HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases ANP32B 10541 genome.wustl.edu 37 9 100767376 100767376 + Missense_Mutation SNP A A T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_006401.2 +1 validated p.Q153L 0.944 252 0% 295 35.9% 380 43.4% benign(0.001) deleterious(0.05) neutral(0.345) superfamily_Outer arm dynein light chain 1 SVEP1 79987 genome.wustl.edu 37 9 113139605 113139605 + Missense_Mutation SNP G G A rs189890058 by1000genomes TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_153366.3 -1 validated p.R3484C 0.990 105 0% 119 37.8% 11 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin FGFR2 2263 genome.wustl.edu 37 10 123279677 123279677 + Missense_Mutation SNP G G C rs79184941 byCluster TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_022970.3 -1 reviewed p.S252W 1.000 98 0% 91 71.4% 19 100% probably_damaging(0.963) tolerated(0.07) deleterious(0.725) NULL TM7SF2 7108 genome.wustl.edu 37 11 64881060 64881060 + Silent SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_003273.2 +1 validated p.I199 0.906 252 0% 204 31.9% 47 36.1% - - - HMMPfam_ERG4_ERG24 CHD4 1108 genome.wustl.edu 37 12 6697097 6697097 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001273.2 -1 reviewed p.R1162W 1.000 193 0% 149 32.9% 37 51.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases TPT1 7178 genome.wustl.edu 37 13 45914312 45914312 + Missense_Mutation SNP C C A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_003295.2 -1 provisional p.S37I 1.000 303 0% 347 29.1% 8008 43% benign(0.116) tolerated(0.06) neutral(0.332) HMMPfam_TCTP,superfamily_Mss4-like DET1 55070 genome.wustl.edu 37 15 89074177 89074177 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_017996.3 -1 validated p.R265W 1.000 59 0% 68 26.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Det1 IRX5 10265 genome.wustl.edu 37 16 54967646 54967646 + Missense_Mutation SNP A A G novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_005853.5 +1 validated p.H438R 1.000 18 0% 26 26.9% 3 33.3% unknown(0) deleterious(0.03) - NULL HPR 3250 genome.wustl.edu 37 16 72109051 72109051 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_020995.3 +1 validated p.Y67* 0.908 809 0% 841 23.3% 0 - - - - superfamily_Complement control module/SCR domain ENSG00000214331 0 genome.wustl.edu 37 16 74394622 74394622 + Missense_Mutation SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb ENST00000429810 -1 known p.V46I 1.000 215 0% 208 19.7% 0 - probably_damaging(0.986) tolerated(0.05) deleterious(0.780) HMMPfam_DAO,superfamily_SSF51905 LLGL1 3996 genome.wustl.edu 37 17 18145018 18145018 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_004140.3 +1 reviewed p.R919H 0.996 32 0% 42 33.3% 23 34.7% possibly_damaging(0.933) deleterious(0.02) deleterious(0.762) NULL ARSG 22901 genome.wustl.edu 37 17 66416355 66416355 + Silent SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_014960.3 +1 validated p.S443 0.004 250 0% 219 36.5% 15 60% - - - superfamily_Alkaline_phosphatase_core KIF19 124602 genome.wustl.edu 37 17 72351378 72351378 + Missense_Mutation SNP G G A rs143319610 by1000genomes TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_153209.3 +1 validated p.R975Q 0.002 33 0% 31 29% 37 40.5% possibly_damaging(0.781) deleterious(0) deleterious(0.737) NULL CSNK1D 1453 genome.wustl.edu 37 17 80210954 80210954 + Missense_Mutation SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001893.3 -1 reviewed p.R168H 1.000 307 0% 351 25.9% 56 30.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CCDC102B 79839 genome.wustl.edu 37 18 66504173 66504173 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001093729.1 +1 validated p.C58Y 0.000 149 0% 144 31.9% 0 - benign(0) tolerated(1) - NULL RDH8 50700 genome.wustl.edu 37 19 10131963 10131963 + Missense_Mutation SNP C C A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_015725.2 +1 validated p.T190N 0.999 92 0% 84 31% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_NAD(P)-bd ICOSLG 23308 genome.wustl.edu 37 21 45656979 45656979 + Silent SNP C C G novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_015259.4 -1 validated p.S59 0.000 226 0% 222 31.5% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PI4KA 5297 genome.wustl.edu 37 22 21082096 21082096 + Missense_Mutation SNP G G C novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_058004.2 -1 reviewed p.P1522R 1.000 122 1.6% 128 43% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat CRYBB2 1415 genome.wustl.edu 37 22 25623845 25623845 + Missense_Mutation SNP T T A rs113556772 TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_000496.2 +1 reviewed p.C67S 1.000 40 0% 49 46.9% 0 - benign(0.02) deleterious(0) neutral(0.446) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF USP27X 389856 genome.wustl.edu 37 X 49646131 49646131 + Silent SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001145073.1 +1 provisional p.D407 0.991 134 0% 133 30.8% 11 0% - - - HMMPfam_UCH,superfamily_SSF54001 RAB40AL 282808 genome.wustl.edu 37 X 102192541 102192541 + Missense_Mutation SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001031834.1 +1 reviewed p.R99C 1.000 291 0% 338 17.8% 1 0% benign(0.068) deleterious(0) neutral(0.449) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 COL4A5 1287 genome.wustl.edu 37 X 107834398 107834398 + Missense_Mutation SNP G G A rs104886111 TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_033380.1 +1 reviewed p.G426R 1.000 144 0% 132 34.8% 1 0% unknown(0) deleterious(0) - HMMPfam_Collagen GRIA3 2892 genome.wustl.edu 37 X 122318450 122318450 + Silent SNP G G T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_000828.4 +1 reviewed p.G21V 1.000 333 0% 257 31.9% 0 - - - - NULL LOC100129236 100129236 genome.wustl.edu 37 X 150684443 150684443 + Missense_Mutation SNP G G A novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb XM_001716550.1 +1 model p.A85T 0.000 179 0% 91 17.6% 0 - - - - NULL NSDHL 50814 genome.wustl.edu 37 X 152036177 152036177 + Missense_Mutation SNP C C T novel TCGA-BG-A0VV-01A-21D-A122-09 TCGA-BG-A0VV-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c3a84692-bd49-49fc-8bfd-a3adf9a7c317 ac9536ac-b761-40a2-9189-ec7095e1e4eb NM_001129765.1 +1 reviewed p.A250V 1.000 76 0% 87 20.7% 42 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd