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 COL16A1 1307 genome.wustl.edu 37 1 32150225 32150225 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001856.3 -1 reviewed p.A687S 1.000 50 0% 61 39.3% 2 0% unknown(0) tolerated(0.53) - HMMPfam_Collagen LOC646377 646377 genome.wustl.edu 37 1 158848716 158848716 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d XM_001725569.1 +1 model p.G101C 0.004 126 0% 80 35% 0 - - - - HMMPfam_PAAD_DAPIN HMCN1 83872 genome.wustl.edu 37 1 186039802 186039802 + Silent SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_031935.2 +1 reviewed p.V2684 1.000 211 0% 112 15.2% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CFH 3075 genome.wustl.edu 37 1 196658705 196658705 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_000186.3 +1 reviewed p.C374G 0.941 220 0% 72 25% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain OR14A16 284532 genome.wustl.edu 37 1 247978284 247978284 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001001966.1 -1 provisional p.S250P 0.000 137 0% 88 20.5% 0 - possibly_damaging(0.904) tolerated(0.09) deleterious(0.655) HMMPfam_7tm_1,superfamily_SSF81321 OR2L5 81466 genome.wustl.edu 37 1 248185831 248185831 + Silent SNP T T C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d ENST00000355281 +1 known p.Y194 0.400 374 0.3% 196 20.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TPO 7173 genome.wustl.edu 37 2 1488387 1488387 + Missense_Mutation SNP A A C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_000547.5 +1 reviewed p.Y453S 0.998 44 0% 41 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases APOB 338 genome.wustl.edu 37 2 21255235 21255235 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_000384.2 -1 reviewed p.A448V 0.962 56 0% 17 58.8% 0 - benign(0) - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain PLEK 5341 genome.wustl.edu 37 2 68613726 68613726 + Missense_Mutation SNP T T A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_002664.2 +1 validated p.Y189N 0.995 208 0% 121 50.4% 3 0% possibly_damaging(0.528) deleterious(0.03) deleterious(0.542) HMMPfam_DEP,HMMSmart_DEP,superfamily_SSF46785 STEAP3 55240 genome.wustl.edu 37 2 120005381 120005381 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_182915.2 +1 validated p.R217C 1.000 28 0% 80 23.7% 11 9% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) superfamily_NAD(P)-binding Rossmann-fold domains SCN9A 6335 genome.wustl.edu 37 2 167133663 167133663 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_002977.3 -1 reviewed p.D891Y 0.644 346 0% 143 50.3% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TTN 7273 genome.wustl.edu 37 2 179647564 179647564 + Silent SNP G G C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_133379.3 -1 reviewed p.T1023 0.840 101 0% 46 21.7% 0 - - - - HMMPfam_I-set,superfamily_SSF48726 ERBB4 2066 genome.wustl.edu 37 2 212578349 212578349 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_005235.2 -1 reviewed p.S303F 1.000 242 0.4% 235 17% 23 21.7% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Furin-like,superfamily_Growth factor receptor domain AQP12B 653437 genome.wustl.edu 37 2 241621800 241621800 + Frame_Shift_Del DEL C C - novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001102467.1 -1 validated p.S152fs 1.000 - - - - - - - - - superfamily_MIP VGLL3 389136 genome.wustl.edu 37 3 87018143 87018143 + Silent SNP G G C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d ENST00000494229 -1 known p.L112V 1.000 69 0% 32 40.6% 0 - - - - NULL SIDT1 54847 genome.wustl.edu 37 3 113327301 113327301 + Silent SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_017699.2 +1 validated p.Y546 0.996 338 0% 264 16.3% 4 25% - - - NULL EPHB1 2047 genome.wustl.edu 37 3 134670786 134670786 + Missense_Mutation SNP G G C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_004441.4 +1 reviewed p.D233H 1.000 178 0% 102 25.5% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL DVL3 1857 genome.wustl.edu 37 3 183887906 183887906 + Silent SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_004423.3 +1 reviewed p.P537 0.526 26 0% 95 44.2% 122 29.5% - - - NULL GABRB1 2560 genome.wustl.edu 37 4 47163373 47163373 + Silent SNP C C G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_000812.3 +1 reviewed p.L116 1.000 158 0% 78 26.9% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD LOC644578 644578 genome.wustl.edu 37 4 64216537 64216537 + Missense_Mutation SNP G G C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d XM_927694.2 +1 model p.M290I 0.991 86 0% 203 14.8% 0 - - - - "HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" KIAA1109 84162 genome.wustl.edu 37 4 123283303 123283303 + Nonsense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d ENST00000306802 +1 known p.W1349* 1.000 196 0% 141 46.1% 18 66.6% benign(0.42) deleterious(0.01) deleterious(0.542) HMMPfam_FSA_C SLC6A19 340024 genome.wustl.edu 37 5 1217005 1217005 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001003841.2 +1 reviewed p.A373V 0.000 49 0% 114 27.2% 0 - benign(0) tolerated(0.26) neutral(0.034) HMMPfam_SNF CNOT8 9337 genome.wustl.edu 37 5 154251380 154251380 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_004779.4 +1 provisional p.F188L 1.000 409 0% 235 59.1% 60 61.6% benign(0.419) tolerated(0.11) neutral(0.408) HMMPfam_CAF1,superfamily_Ribonuclease H-like UIMC1 51720 genome.wustl.edu 37 5 176396234 176396234 + Silent SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_016290.3 -1 provisional p.N174 1.000 97 0% 100 66% 3 0% - - - NULL SYNCRIP 10492 genome.wustl.edu 37 6 86350171 86350171 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_006372.4 -1 validated p.H87R 1.000 185 0% 450 43.6% 138 49.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MYO1G 64005 genome.wustl.edu 37 7 45015245 45015245 + Silent SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_033054.2 -1 validated p.V134 1.000 148 0% 287 23.3% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases HYAL4 23553 genome.wustl.edu 37 7 123508467 123508467 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_012269.2 +1 reviewed p.P47L 1.000 205 0% 82 35.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat KCNH2 3757 genome.wustl.edu 37 7 150647423 150647423 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_000238.2 -1 reviewed p.R744Q 0.935 18 0% 16 43.8% 33 48.4% possibly_damaging(0.827) tolerated(0.1) deleterious(0.601) HMMSmart_SM00100,superfamily_cAMP-binding domain-like MARCH8 220972 genome.wustl.edu 37 10 45953693 45953693 + Frame_Shift_Del DEL G G - novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001002265.1 -1 validated p.H290fs 0.633 - - - - - - - - - NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105361734 105361734 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_014631.2 -1 validated p.A1053T 0.999 121 0% 253 24.1% 16 6.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00326,superfamily_SH3-domain AMBRA1 55626 genome.wustl.edu 37 11 46563555 46563555 + Nonsense_Mutation SNP G G C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_017749.2 -1 validated p.S581* 1.000 86 0% 67 20.9% 7 0% - - - NULL AMBRA1 55626 genome.wustl.edu 37 11 46563649 46563649 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_017749.2 -1 validated p.P550S 0.996 77 0% 61 18% 7 0% benign(0.032) tolerated(0.45) neutral(0.013) NULL AMBRA1 55626 genome.wustl.edu 37 11 46563735 46563735 + Nonsense_Mutation SNP G G T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_017749.2 -1 validated p.S521* 0.031 71 0% 54 25.9% 5 0% - - - NULL OR5D13 390142 genome.wustl.edu 37 11 55541186 55541186 + Nonsense_Mutation SNP C C A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001001967.1 +1 provisional p.Y91* 0.413 422 0% 109 20.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5M11 219487 genome.wustl.edu 37 11 56309920 56309920 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001005245.1 -1 provisional p.I272L 0.977 199 0% 104 30.8% 0 - benign(0.199) tolerated(0.06) neutral(0.342) HMMPfam_7tm_1,superfamily_SSF81321 KIAA1377 57562 genome.wustl.edu 37 11 101818803 101818803 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_020802.2 +1 validated p.Q146E 1.000 236 0% 119 26.9% 0 - possibly_damaging(0.77) deleterious(0) deleterious(0.730) NULL LOC120364 120364 genome.wustl.edu 37 11 110659304 110659304 + Silent SNP T T C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d XM_062025.5 -1 model p.E132 0.998 5 0.000 7 1.000 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD B4GALNT3 283358 genome.wustl.edu 37 12 665751 665751 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_173593.3 +1 validated p.R700H 0.998 72 0% 83 42.2% 11 27.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IPO8 10526 genome.wustl.edu 37 12 30792516 30792516 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_006390.2 -1 reviewed p.H808Y 0.998 212 0% 125 28.8% 24 25% possibly_damaging(0.446) deleterious(0.01) deleterious(0.551) superfamily_ARM-type_fold NUAK1 9891 genome.wustl.edu 37 12 106460791 106460791 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_014840.2 -1 validated p.R592H 0.962 104 0% 50 92% 7 100% benign(0.034) tolerated(0.49) neutral(0.013) NULL MYCBP2 23077 genome.wustl.edu 37 13 77672321 77672321 + Silent SNP G G T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_015057.4 -1 validated p.R2952 1.000 240 0% 102 37.3% 7 71.4% - - - NULL OR4K5 79317 genome.wustl.edu 37 14 20389239 20389239 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001005483.1 +1 provisional p.S158R 0.000 305 0% 167 12% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_7tm_1,superfamily_SSF81321 AKAP6 9472 genome.wustl.edu 37 14 33046446 33046446 + Missense_Mutation SNP T T A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_004274.4 +1 reviewed p.L823M 1.000 226 0% 157 19.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00150,superfamily_Spectrin repeat PRPF39 55015 genome.wustl.edu 37 14 45564523 45564523 + Silent SNP T T C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_017922.3 +1 validated p.H27 0.001 164 0% 151 14.6% 15 13.3% - - - NULL ZFYVE1 53349 genome.wustl.edu 37 14 73441624 73441624 + Missense_Mutation SNP T T A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_021260.1 -1 reviewed p.K617M 1.000 122 0% 131 19.8% 18 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger C15orf57 90416 genome.wustl.edu 37 15 40846194 40846211 + In_Frame_Del DEL GTCCCCGGCTGCTGGCTC GTCCCCGGCTGCTGGCTC - novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 GTCCCCGGCTGCTGGCTC GTCCCCGGCTGCTGGCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001080791.1 -1 validated p.EPAAGD182in_frame_del 0.145:0.963:0.967:0.730:0.183:0.163:0.141:0.139:0.074:0.030:0.003:0.003:0.005:0.021:0.024:0.029:0.037:0.017 - - - - - - - - - NULL C15orf57 90416 genome.wustl.edu 37 15 40846211 40846211 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001080791.1 -1 validated p.E182K 0.017 74 0% 36 22.2% 10 20% benign(0.002) tolerated(0.26) neutral(0.034) NULL STARD9 57519 genome.wustl.edu 37 15 42977101 42977101 + Silent SNP T T C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d XM_001129482.3 +1 model p.L1061 0.986 57 0% 34 58.8% 0 - - - - NULL ATP8B4 79895 genome.wustl.edu 37 15 50168603 50168603 + Missense_Mutation SNP A A T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_024837.2 -1 validated p.L967I 0.235 229 0% 70 28.6% 0 - benign(0.017) tolerated(0.31) neutral(0.028) superfamily_SSF81665 RNF111 54778 genome.wustl.edu 37 15 59344632 59344632 + Splice_Site SNP T T C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_017610.6 +1 reviewed e2+2 1.000 147 0% 73 90.4% 2 100% - - - - RORA 6095 genome.wustl.edu 37 15 60792104 60792104 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_134260.2 -1 reviewed p.G498V 1.000 485 0% 161 19.3% 2 0% benign(0.361) tolerated(0.09) neutral(0.411) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain LOC81691 81691 genome.wustl.edu 37 16 20837226 20837226 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_030941.2 +1 validated p.D259E 1.000 322 0% 157 32.5% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T FTO 79068 genome.wustl.edu 37 16 53738099 53738120 + Frame_Shift_Del DEL GAAGCGCACCCCGACTGCCGAG GAAGCGCACCCCGACTGCCGAG - novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 GAAGCGCACCCCGACTGCCGAG GAAGCGCACCCCGACTGCCGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001080432.2 +1 reviewed p.K2fs 1.000:1.000:1.000:1.000:1.000:0.995:0.261:0.215:0.197:0.200:0.381:0.384:0.464:0.502:0.502:0.168:0.393:0.612:0.627:0.967:0.999:1.000 - - - - - - - - - NULL CDH8 1006 genome.wustl.edu 37 16 61761039 61761039 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001796.2 -1 reviewed p.E499K 1.000 298 0.3% 72 27.8% 0 - benign(0.167) tolerated(0.29) neutral(0.044) superfamily_Cadherin HPR 3250 genome.wustl.edu 37 16 72110565 72110565 + Nonsense_Mutation SNP C C G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_020995.3 +1 validated p.S211* 0.293 198 0% 90 36.7% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TP53 7157 genome.wustl.edu 37 17 7577525 7577527 + In_Frame_Del DEL GAG GAG - novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_000546.4 -1 reviewed p.L252in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_p53-like transcription factors,HMMPfam_P53 MYH2 4620 genome.wustl.edu 37 17 10432378 10432378 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001100112.1 -1 reviewed p.E1125Q 1.000 160 0% 53 34% 0 - possibly_damaging(0.755) tolerated(0.17) neutral(0.338) HMMPfam_Myosin_tail_1 MYOCD 93649 genome.wustl.edu 37 17 12666635 12666635 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_153604.2 +1 reviewed p.E831K 0.996 160 0% 72 36.1% 0 - possibly_damaging(0.862) deleterious(0.01) deleterious(0.739) NULL HDAC5 10014 genome.wustl.edu 37 17 42165910 42165910 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001015053.1 -1 reviewed p.R483W 1.000 38 0% 97 20.6% 63 4.7% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) NULL ACSF2 80221 genome.wustl.edu 37 17 48551099 48551099 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_025149.4 +1 validated p.G517S 1.000 133 0% 599 20.2% 45 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_SSF56801 SDK2 54549 genome.wustl.edu 37 17 71431667 71431667 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001144952.1 -1 provisional p.D373Y 1.000 38 0% 91 39.6% 2 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ZFP161 7541 genome.wustl.edu 37 18 5292192 5292192 + Silent SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001143823.1 -1 validated p.I5 1.000 31 0% 30 76.7% 10 100% - - - NULL PIEZO2 63895 genome.wustl.edu 37 18 10696220 10696220 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d ENST00000503781 -1 known p.V192L 1.000 104 0% 34 20.6% 1 0% benign(0.164) tolerated(0.78) neutral(0.016) NULL SETBP1 26040 genome.wustl.edu 37 18 42618514 42618514 + Silent SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_015559.2 +1 validated p.V1355 0.000 302 0% 256 13.7% 6 16.6% - - - NULL FBXL12 54850 genome.wustl.edu 37 19 9921763 9921763 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_017703.1 -1 provisional p.V264I 0.000 144 0% 384 12.2% 55 14.5% benign(0) tolerated(0.79) neutral(0.001) superfamily_RNI-like FBXL12 54850 genome.wustl.edu 37 19 9922308 9922308 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_017703.1 -1 provisional p.S82F 0.343 24 0% 68 17.6% 66 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNI-like ILVBL 10994 genome.wustl.edu 37 19 15234039 15234039 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_006844.3 -1 reviewed p.A118V 0.985 32 0% 93 22.6% 66 16.6% benign(0.288) tolerated(0.1) neutral(0.375) HMMPfam_TPP_enzyme_N,superfamily_Thiamin diphosphate-binding fold (THDP-binding) GMIP 51291 genome.wustl.edu 37 19 19740999 19740999 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_016573.2 -1 reviewed p.E896K 0.622 43 0% 83 21.7% 24 8.3% benign(0.425) deleterious(0) deleterious(0.583) NULL TSHZ3 57616 genome.wustl.edu 37 19 31770270 31770270 + Silent SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_020856.2 -1 validated p.S143 0.280 300 0% 305 23% 0 - - - - NULL SRRM5 100170229 genome.wustl.edu 37 19 44116872 44116872 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001145641.1 +1 validated p.G200V 0.018 125 0% 248 23% 1 100% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL ZNF180 7733 genome.wustl.edu 37 19 44982013 44982013 + Missense_Mutation SNP G G C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_013256.3 -1 validated p.L229V 0.000 121 0% 164 48.2% 7 14.2% benign(0.006) tolerated(0.5) neutral(0.010) NULL FPR3 2359 genome.wustl.edu 37 19 52327703 52327703 + Silent SNP T T A novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_002030.3 +1 validated p.I234 0.608 455 0% 250 19.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF610 162963 genome.wustl.edu 37 19 52869936 52869936 + Missense_Mutation SNP G G C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_173530.2 +1 validated p.K435N 0.097 170 0% 176 28.4% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SAMSN1 64092 genome.wustl.edu 37 21 15893508 15893508 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_022136.3 -1 validated p.R31Q 1.000 106 0% 42 45.2% 2 0% probably_damaging(0.997) tolerated(0.21) deleterious(0.510) NULL DSCAM 1826 genome.wustl.edu 37 21 41385072 41385072 + Silent SNP T T G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001389.3 -1 validated p.G1976 0.303 89 0% 62 24.2% 0 - - - - NULL GPR143 4935 genome.wustl.edu 37 X 9727401 9727401 + Silent SNP A A G novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d ENST00000447366 -1 known p.S78P 0.980 128 0% 171 31% 8 50% - - - HMMPfam_Ocular_alb GK 2710 genome.wustl.edu 37 X 30709281 30709281 + Missense_Mutation SNP A A C novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001128127.1 +1 reviewed p.S127R 1.000 141 0% 112 18.8% 1 100% benign(0.001) tolerated(0.46) neutral(0.012) HMMPfam_FGGY_N,superfamily_SSF53067 FLNA 2316 genome.wustl.edu 37 X 153582383 153582383 + Nonsense_Mutation SNP G G T novel TCGA-D1-A0ZZ-01A-11D-A10M-09 TCGA-D1-A0ZZ-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45527592-6c3f-4c68-9a56-2328098263ed 6a07228a-7bd7-4bde-b089-855dd2a9155d NM_001110556.1 -1 reviewed p.Y1862* 0.443 126 0% 183 89.6% 29 68.9% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin